OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.37815668T>C | CA359613686 | GDNF | c.619A>G (p.Arg207Gly) c.541A>G (p.Arg181Gly) c.592A>G (p.Arg198Gly) c.670A>G (p.Arg224Gly) c.463A>G (p.Arg155Gly) | |
| 5 | g.37815668T>G | CA444019385 | GDNF | c.619A>C (p.Arg207=) c.541A>C (p.Arg181=) c.592A>C (p.Arg198=) c.670A>C (p.Arg224=) c.463A>C (p.Arg155=) | |
| 5 | g.37815669T>A | CA359613687 | GDNF | c.618A>T (p.Lys206Asn) c.540A>T (p.Lys180Asn) c.591A>T (p.Lys197Asn) c.669A>T (p.Lys223Asn) c.462A>T (p.Lys154Asn) | |
| 5 | g.37815669T>C | CA444019389 | GDNF | c.618A>G (p.Lys206=) c.540A>G (p.Lys180=) c.591A>G (p.Lys197=) c.669A>G (p.Lys223=) c.462A>G (p.Lys154=) | |
| 5 | g.37815669T>G | CA359613688 | GDNF | c.618A>C (p.Lys206Asn) c.540A>C (p.Lys180Asn) c.591A>C (p.Lys197Asn) c.669A>C (p.Lys223Asn) c.462A>C (p.Lys154Asn) | gnomAD v4 |
| 5 | g.37815670T>A | CA359613689 | GDNF | c.617A>T (p.Lys206Ile) c.539A>T (p.Lys180Ile) c.590A>T (p.Lys197Ile) c.668A>T (p.Lys223Ile) c.461A>T (p.Lys154Ile) | |
| 5 | g.37815670T>C | CA359613690 | GDNF | c.617A>G (p.Lys206Arg) c.539A>G (p.Lys180Arg) c.590A>G (p.Lys197Arg) c.668A>G (p.Lys223Arg) c.461A>G (p.Lys154Arg) | |
| 5 | g.37815670T>G | CA359613691 | GDNF | c.617A>C (p.Lys206Thr) c.539A>C (p.Lys180Thr) c.590A>C (p.Lys197Thr) c.668A>C (p.Lys223Thr) c.461A>C (p.Lys154Thr) | |
| 5 | g.37815671T>A | CA359613694 | GDNF | c.616A>T (p.Lys206Ter) c.538A>T (p.Lys180Ter) c.589A>T (p.Lys197Ter) c.667A>T (p.Lys223Ter) c.460A>T (p.Lys154Ter) | |
| 5 | g.37815671T>C | CA359613693 | GDNF | c.616A>G (p.Lys206Glu) c.538A>G (p.Lys180Glu) c.589A>G (p.Lys197Glu) c.667A>G (p.Lys223Glu) c.460A>G (p.Lys154Glu) | dbSNP COSMIC COSMIC |
| 5 | g.37815671T>G | CA359613692 | GDNF | c.616A>C (p.Lys206Gln) c.538A>C (p.Lys180Gln) c.589A>C (p.Lys197Gln) c.667A>C (p.Lys223Gln) c.460A>C (p.Lys154Gln) | |
| 5 | g.37815672A>C | CA444019399 | GDNF | c.615T>G (p.Ala205=) c.537T>G (p.Ala179=) c.588T>G (p.Ala196=) c.666T>G (p.Ala222=) c.459T>G (p.Ala153=) | gnomAD v4 |
| 5 | g.37815672A>G | CA444019401 | GDNF | c.615T>C (p.Ala205=) c.537T>C (p.Ala179=) c.588T>C (p.Ala196=) c.666T>C (p.Ala222=) c.459T>C (p.Ala153=) | |
| 5 | g.37815672A>T | CA444019397 | GDNF | c.615T>A (p.Ala205=) c.537T>A (p.Ala179=) c.588T>A (p.Ala196=) c.666T>A (p.Ala222=) c.459T>A (p.Ala153=) | |
| 5 | g.37815673G>A | CA359613695 | GDNF | c.614C>T (p.Ala205Val) c.536C>T (p.Ala179Val) c.587C>T (p.Ala196Val) c.665C>T (p.Ala222Val) c.458C>T (p.Ala153Val) | |
| 5 | g.37815673G>C | CA359613696 | GDNF | c.614C>G (p.Ala205Gly) c.536C>G (p.Ala179Gly) c.587C>G (p.Ala196Gly) c.665C>G (p.Ala222Gly) c.458C>G (p.Ala153Gly) | |
| 5 | g.37815673G>T | CA359613697 | GDNF | c.614C>A (p.Ala205Asp) c.536C>A (p.Ala179Asp) c.587C>A (p.Ala196Asp) c.665C>A (p.Ala222Asp) c.458C>A (p.Ala153Asp) | |
| 5 | g.37815674C>A | CA359613698 | GDNF | c.613G>T (p.Ala205Ser) c.535G>T (p.Ala179Ser) c.586G>T (p.Ala196Ser) c.664G>T (p.Ala222Ser) c.457G>T (p.Ala153Ser) | |
| 5 | g.37815674C= | CA1539962768 | GDNF | c.613G= (p.Ala205=) c.535G= (p.Ala179=) c.586G= (p.Ala196=) c.664G= (p.Ala222=) c.457G= (p.Ala153=) | |
| 5 | g.37815674C>G | CA359613699 | GDNF | c.613G>C (p.Ala205Pro) c.535G>C (p.Ala179Pro) c.586G>C (p.Ala196Pro) c.664G>C (p.Ala222Pro) c.457G>C (p.Ala153Pro) | |
| 5 | g.37815674C>T | CA359613700 | GDNF | c.613G>A (p.Ala205Thr) c.535G>A (p.Ala179Thr) c.586G>A (p.Ala196Thr) c.664G>A (p.Ala222Thr) c.457G>A (p.Ala153Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815675G>A | CA3241162 | GDNF | c.612C>T (p.Ser204=) c.534C>T (p.Ser178=) c.585C>T (p.Ser195=) c.663C>T (p.Ser221=) c.456C>T (p.Ser152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815675G>C | CA444019408 | GDNF | c.612C>G (p.Ser204=) c.534C>G (p.Ser178=) c.585C>G (p.Ser195=) c.663C>G (p.Ser221=) c.456C>G (p.Ser152=) | |
| 5 | g.37815675G= | CA1539962774 | GDNF | c.612C= (p.Ser204=) c.534C= (p.Ser178=) c.585C= (p.Ser195=) c.663C= (p.Ser221=) c.456C= (p.Ser152=) | |
| 5 | g.37815675G>T | CA444019410 | GDNF | c.612C>A (p.Ser204=) c.534C>A (p.Ser178=) c.585C>A (p.Ser195=) c.663C>A (p.Ser221=) c.456C>A (p.Ser152=) | |
| 5 | g.37815676G>A | CA117493061 | GDNF | c.611C>T (p.Ser204Phe) c.533C>T (p.Ser178Phe) c.584C>T (p.Ser195Phe) c.662C>T (p.Ser221Phe) c.455C>T (p.Ser152Phe) | dbSNP |
| 5 | g.37815676G>C | CA359613701 | GDNF | c.611C>G (p.Ser204Cys) c.533C>G (p.Ser178Cys) c.584C>G (p.Ser195Cys) c.662C>G (p.Ser221Cys) c.455C>G (p.Ser152Cys) | |
| 5 | g.37815676G= | CA1539962778 | GDNF | c.611C= (p.Ser204=) c.533C= (p.Ser178=) c.584C= (p.Ser195=) c.662C= (p.Ser221=) c.455C= (p.Ser152=) | |
| 5 | g.37815676G>T | CA359613702 | GDNF | c.611C>A (p.Ser204Tyr) c.533C>A (p.Ser178Tyr) c.584C>A (p.Ser195Tyr) c.662C>A (p.Ser221Tyr) c.455C>A (p.Ser152Tyr) | |
| 5 | g.37815677A>C | CA359613703 | GDNF | c.610T>G (p.Ser204Ala) c.532T>G (p.Ser178Ala) c.583T>G (p.Ser195Ala) c.661T>G (p.Ser221Ala) c.454T>G (p.Ser152Ala) | |
| 5 | g.37815677A>G | CA359613704 | GDNF | c.610T>C (p.Ser204Pro) c.532T>C (p.Ser178Pro) c.583T>C (p.Ser195Pro) c.661T>C (p.Ser221Pro) c.454T>C (p.Ser152Pro) | |
| 5 | g.37815677A>T | CA359613705 | GDNF | c.610T>A (p.Ser204Thr) c.532T>A (p.Ser178Thr) c.583T>A (p.Ser195Thr) c.661T>A (p.Ser221Thr) c.454T>A (p.Ser152Thr) | |
| 5 | g.37815678A>C | CA359613707 | GDNF | c.609T>G (p.His203Gln) c.531T>G (p.His177Gln) c.582T>G (p.His194Gln) c.660T>G (p.His220Gln) c.453T>G (p.His151Gln) | |
| 5 | g.37815678A>G | CA444019418 | GDNF | c.609T>C (p.His203=) c.531T>C (p.His177=) c.582T>C (p.His194=) c.660T>C (p.His220=) c.453T>C (p.His151=) | gnomAD v4 |
| 5 | g.37815678A>T | CA359613706 | GDNF | c.609T>A (p.His203Gln) c.531T>A (p.His177Gln) c.582T>A (p.His194Gln) c.660T>A (p.His220Gln) c.453T>A (p.His151Gln) | |
| 5 | g.37815679T>A | CA359613708 | GDNF | c.608A>T (p.His203Leu) c.530A>T (p.His177Leu) c.581A>T (p.His194Leu) c.659A>T (p.His220Leu) c.452A>T (p.His151Leu) | |
| 5 | g.37815679T>C | CA359613709 | GDNF | c.608A>G (p.His203Arg) c.530A>G (p.His177Arg) c.581A>G (p.His194Arg) c.659A>G (p.His220Arg) c.452A>G (p.His151Arg) | |
| 5 | g.37815679T>G | CA359613710 | GDNF | c.608A>C (p.His203Pro) c.530A>C (p.His177Pro) c.581A>C (p.His194Pro) c.659A>C (p.His220Pro) c.452A>C (p.His151Pro) | |
| 5 | g.37815680G>A | CA359613711 | GDNF | c.607C>T (p.His203Tyr) c.529C>T (p.His177Tyr) c.580C>T (p.His194Tyr) c.658C>T (p.His220Tyr) c.451C>T (p.His151Tyr) | gnomAD v4 |
| 5 | g.37815680G>C | CA359613712 | GDNF | c.607C>G (p.His203Asp) c.529C>G (p.His177Asp) c.580C>G (p.His194Asp) c.658C>G (p.His220Asp) c.451C>G (p.His151Asp) | |
| 5 | g.37815680G>T | CA359613713 | GDNF | c.607C>A (p.His203Asn) c.529C>A (p.His177Asn) c.580C>A (p.His194Asn) c.658C>A (p.His220Asn) c.451C>A (p.His151Asn) | |
| 5 | g.37815681C>A | CA359613714 | GDNF | c.606G>T (p.Lys202Asn) c.528G>T (p.Lys176Asn) c.579G>T (p.Lys193Asn) c.657G>T (p.Lys219Asn) c.450G>T (p.Lys150Asn) | |
| 5 | g.37815681C>G | CA359613715 | GDNF | c.606G>C (p.Lys202Asn) c.528G>C (p.Lys176Asn) c.579G>C (p.Lys193Asn) c.657G>C (p.Lys219Asn) c.450G>C (p.Lys150Asn) | |
| 5 | g.37815681C>T | CA444019427 | GDNF | c.606G>A (p.Lys202=) c.528G>A (p.Lys176=) c.579G>A (p.Lys193=) c.657G>A (p.Lys219=) c.450G>A (p.Lys150=) | |
| 5 | g.37815682T>A | CA359613716 | GDNF | c.605A>T (p.Lys202Met) c.527A>T (p.Lys176Met) c.578A>T (p.Lys193Met) c.656A>T (p.Lys219Met) c.449A>T (p.Lys150Met) | |
| 5 | g.37815682T>C | CA3241163 | GDNF | c.605A>G (p.Lys202Arg) c.527A>G (p.Lys176Arg) c.578A>G (p.Lys193Arg) c.656A>G (p.Lys219Arg) c.449A>G (p.Lys150Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37815682T>G | CA359613717 | GDNF | c.605A>C (p.Lys202Thr) c.527A>C (p.Lys176Thr) c.578A>C (p.Lys193Thr) c.656A>C (p.Lys219Thr) c.449A>C (p.Lys150Thr) | COSMIC COSMIC |
| 5 | g.37815682T= | CA1539962794 | GDNF | c.605A= (p.Lys202=) c.527A= (p.Lys176=) c.578A= (p.Lys193=) c.656A= (p.Lys219=) c.449A= (p.Lys150=) | |
| 5 | g.37815683T>A | CA359613718 | GDNF | c.604A>T (p.Lys202Ter) c.526A>T (p.Lys176Ter) c.577A>T (p.Lys193Ter) c.655A>T (p.Lys219Ter) c.448A>T (p.Lys150Ter) | |
| 5 | g.37815683T>C | CA359613719 | GDNF | c.604A>G (p.Lys202Glu) c.526A>G (p.Lys176Glu) c.577A>G (p.Lys193Glu) c.655A>G (p.Lys219Glu) c.448A>G (p.Lys150Glu) | |
| 5 | g.37815683T>G | CA359613720 | GDNF | c.604A>C (p.Lys202Gln) c.526A>C (p.Lys176Gln) c.577A>C (p.Lys193Gln) c.655A>C (p.Lys219Gln) c.448A>C (p.Lys150Gln) | |
| 5 | g.37815684T>A | CA359613722 | GDNF | c.603A>T (p.Arg201Ser) c.525A>T (p.Arg175Ser) c.576A>T (p.Arg192Ser) c.654A>T (p.Arg218Ser) c.447A>T (p.Arg149Ser) | |
| 5 | g.37815684T>C | CA444019437 | GDNF | c.603A>G (p.Arg201=) c.525A>G (p.Arg175=) c.576A>G (p.Arg192=) c.654A>G (p.Arg218=) c.447A>G (p.Arg149=) | |
| 5 | g.37815684T>G | CA359613721 | GDNF | c.603A>C (p.Arg201Ser) c.525A>C (p.Arg175Ser) c.576A>C (p.Arg192Ser) c.654A>C (p.Arg218Ser) c.447A>C (p.Arg149Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815684T= | CA1539962805 | GDNF | c.603A= (p.Arg201=) c.525A= (p.Arg175=) c.576A= (p.Arg192=) c.654A= (p.Arg218=) c.447A= (p.Arg149=) | |
| 5 | g.37815685C>A | CA359613723 | GDNF | c.602G>T (p.Arg201Ile) c.524G>T (p.Arg175Ile) c.575G>T (p.Arg192Ile) c.653G>T (p.Arg218Ile) c.446G>T (p.Arg149Ile) | |
| 5 | g.37815685C>G | CA359613724 | GDNF | c.602G>C (p.Arg201Thr) c.524G>C (p.Arg175Thr) c.575G>C (p.Arg192Thr) c.653G>C (p.Arg218Thr) c.446G>C (p.Arg149Thr) | |
| 5 | g.37815685C>T | CA359613725 | GDNF | c.602G>A (p.Arg201Lys) c.524G>A (p.Arg175Lys) c.575G>A (p.Arg192Lys) c.653G>A (p.Arg218Lys) c.446G>A (p.Arg149Lys) | |
| 5 | g.37815686T>A | CA359613726 | GDNF | c.601A>T (p.Arg201Ter) c.523A>T (p.Arg175Ter) c.574A>T (p.Arg192Ter) c.652A>T (p.Arg218Ter) c.445A>T (p.Arg149Ter) | |
| 5 | g.37815686T>C | CA359613727 | GDNF | c.601A>G (p.Arg201Gly) c.523A>G (p.Arg175Gly) c.574A>G (p.Arg192Gly) c.652A>G (p.Arg218Gly) c.445A>G (p.Arg149Gly) | |
| 5 | g.37815686T>G | CA444019444 | GDNF | c.601A>C (p.Arg201=) c.523A>C (p.Arg175=) c.574A>C (p.Arg192=) c.652A>C (p.Arg218=) c.445A>C (p.Arg149=) | |
| 5 | g.37815687T>A | CA444019446 | GDNF | c.600A>T (p.Leu200=) c.522A>T (p.Leu174=) c.573A>T (p.Leu191=) c.651A>T (p.Leu217=) c.444A>T (p.Leu148=) | |
| 5 | g.37815687T>C | CA444019448 | GDNF | c.600A>G (p.Leu200=) c.522A>G (p.Leu174=) c.573A>G (p.Leu191=) c.651A>G (p.Leu217=) c.444A>G (p.Leu148=) | |
| 5 | g.37815687T>G | CA444019450 | GDNF | c.600A>C (p.Leu200=) c.522A>C (p.Leu174=) c.573A>C (p.Leu191=) c.651A>C (p.Leu217=) c.444A>C (p.Leu148=) | |
| 5 | g.37815688A>C | CA359613730 | GDNF | c.599T>G (p.Leu200Arg) c.521T>G (p.Leu174Arg) c.572T>G (p.Leu191Arg) c.650T>G (p.Leu217Arg) c.443T>G (p.Leu148Arg) | |
| 5 | g.37815688A>G | CA359613729 | GDNF | c.599T>C (p.Leu200Pro) c.521T>C (p.Leu174Pro) c.572T>C (p.Leu191Pro) c.650T>C (p.Leu217Pro) c.443T>C (p.Leu148Pro) | |
| 5 | g.37815688A>T | CA359613728 | GDNF | c.599T>A (p.Leu200Gln) c.521T>A (p.Leu174Gln) c.572T>A (p.Leu191Gln) c.650T>A (p.Leu217Gln) c.443T>A (p.Leu148Gln) | |
| 5 | g.37815689G>A | CA444019456 | GDNF | c.598C>T (p.Leu200=) c.520C>T (p.Leu174=) c.571C>T (p.Leu191=) c.649C>T (p.Leu217=) c.442C>T (p.Leu148=) | |
| 5 | g.37815689G>C | CA359613731 | GDNF | c.598C>G (p.Leu200Val) c.520C>G (p.Leu174Val) c.571C>G (p.Leu191Val) c.649C>G (p.Leu217Val) c.442C>G (p.Leu148Val) | |
| 5 | g.37815689G>T | CA359613732 | GDNF | c.598C>A (p.Leu200Ile) c.520C>A (p.Leu174Ile) c.571C>A (p.Leu191Ile) c.649C>A (p.Leu217Ile) c.442C>A (p.Leu148Ile) | |
| 5 | g.37815690A= | CA1539962810 | GDNF | c.597T= (p.Ile199=) c.519T= (p.Ile173=) c.570T= (p.Ile190=) c.648T= (p.Ile216=) c.441T= (p.Ile147=) | |
| 5 | g.37815690A>C | CA359613733 | GDNF | c.597T>G (p.Ile199Met) c.519T>G (p.Ile173Met) c.570T>G (p.Ile190Met) c.648T>G (p.Ile216Met) c.441T>G (p.Ile147Met) | |
| 5 | g.37815690A>G | CA117493062 | GDNF | c.597T>C (p.Ile199=) c.519T>C (p.Ile173=) c.570T>C (p.Ile190=) c.648T>C (p.Ile216=) c.441T>C (p.Ile147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815690A>T | CA444019462 | GDNF | c.597T>A (p.Ile199=) c.519T>A (p.Ile173=) c.570T>A (p.Ile190=) c.648T>A (p.Ile216=) c.441T>A (p.Ile147=) | |
| 5 | g.37815691A= | CA1539962816 | GDNF | c.596T= (p.Ile199=) c.518T= (p.Ile173=) c.569T= (p.Ile190=) c.647T= (p.Ile216=) c.440T= (p.Ile147=) | |
| 5 | g.37815691A>C | CA359613734 | GDNF | c.596T>G (p.Ile199Ser) c.518T>G (p.Ile173Ser) c.569T>G (p.Ile190Ser) c.647T>G (p.Ile216Ser) c.440T>G (p.Ile147Ser) | |
| 5 | g.37815691A>G | CA359613735 | GDNF | c.596T>C (p.Ile199Thr) c.518T>C (p.Ile173Thr) c.569T>C (p.Ile190Thr) c.647T>C (p.Ile216Thr) c.440T>C (p.Ile147Thr) | dbSNP gnomAD v4 |
| 5 | g.37815691A>T | CA359613736 | GDNF | c.596T>A (p.Ile199Asn) c.518T>A (p.Ile173Asn) c.569T>A (p.Ile190Asn) c.647T>A (p.Ile216Asn) c.440T>A (p.Ile147Asn) | |
| 5 | g.37815692T>A | CA359613739 | GDNF | c.595A>T (p.Ile199Phe) c.517A>T (p.Ile173Phe) c.568A>T (p.Ile190Phe) c.646A>T (p.Ile216Phe) c.439A>T (p.Ile147Phe) | |
| 5 | g.37815692T>C | CA359613737 | GDNF | c.595A>G (p.Ile199Val) c.517A>G (p.Ile173Val) c.568A>G (p.Ile190Val) c.646A>G (p.Ile216Val) c.439A>G (p.Ile147Val) | |
| 5 | g.37815692T>G | CA359613738 | GDNF | c.595A>C (p.Ile199Leu) c.517A>C (p.Ile173Leu) c.568A>C (p.Ile190Leu) c.646A>C (p.Ile216Leu) c.439A>C (p.Ile147Leu) | |
| 5 | g.37815693A= | CA1539962820 | GDNF | c.594T= (p.His198=) c.516T= (p.His172=) c.567T= (p.His189=) c.645T= (p.His215=) c.438T= (p.His146=) | |
| 5 | g.37815693A>C | CA359613740 | GDNF | c.594T>G (p.His198Gln) c.516T>G (p.His172Gln) c.567T>G (p.His189Gln) c.645T>G (p.His215Gln) c.438T>G (p.His146Gln) | |
| 5 | g.37815693A>G | CA444019472 | GDNF | c.594T>C (p.His198=) c.516T>C (p.His172=) c.567T>C (p.His189=) c.645T>C (p.His215=) c.438T>C (p.His146=) | dbSNP gnomAD v4 |
| 5 | g.37815693A>T | CA359613741 | GDNF | c.594T>A (p.His198Gln) c.516T>A (p.His172Gln) c.567T>A (p.His189Gln) c.645T>A (p.His215Gln) c.438T>A (p.His146Gln) | |
| 5 | g.37815694T>A | CA359613742 | GDNF | c.593A>T (p.His198Leu) c.515A>T (p.His172Leu) c.566A>T (p.His189Leu) c.644A>T (p.His215Leu) c.437A>T (p.His146Leu) | |
| 5 | g.37815694T>C | CA359613743 | GDNF | c.593A>G (p.His198Arg) c.515A>G (p.His172Arg) c.566A>G (p.His189Arg) c.644A>G (p.His215Arg) c.437A>G (p.His146Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37815694T>G | CA359613744 | GDNF | c.593A>C (p.His198Pro) c.515A>C (p.His172Pro) c.566A>C (p.His189Pro) c.644A>C (p.His215Pro) c.437A>C (p.His146Pro) | |
| 5 | g.37815694T= | CA1539962825 | GDNF | c.593A= (p.His198=) c.515A= (p.His172=) c.566A= (p.His189=) c.644A= (p.His215=) c.437A= (p.His146=) | |
| 5 | g.37815695G>A | CA359613745 | GDNF | c.592C>T (p.His198Tyr) c.514C>T (p.His172Tyr) c.565C>T (p.His189Tyr) c.643C>T (p.His215Tyr) c.436C>T (p.His146Tyr) | dbSNP |
| 5 | g.37815695G>C | CA359613746 | GDNF | c.592C>G (p.His198Asp) c.514C>G (p.His172Asp) c.565C>G (p.His189Asp) c.643C>G (p.His215Asp) c.436C>G (p.His146Asp) | |
| 5 | g.37815695G= | CA1539962843 | GDNF | c.592C= (p.His198=) c.514C= (p.His172=) c.565C= (p.His189=) c.643C= (p.His215=) c.436C= (p.His146=) | |
| 5 | g.37815695G>T | CA359613747 | GDNF | c.592C>A (p.His198Asn) c.514C>A (p.His172Asn) c.565C>A (p.His189Asn) c.643C>A (p.His215Asn) c.436C>A (p.His146Asn) | |
| 5 | g.37815696G>A | CA444019480 | GDNF | c.591C>T (p.Tyr197=) c.513C>T (p.Tyr171=) c.564C>T (p.Tyr188=) c.642C>T (p.Tyr214=) c.435C>T (p.Tyr145=) | |
| 5 | g.37815696G>C | CA359613748 | GDNF | c.591C>G (p.Tyr197Ter) c.513C>G (p.Tyr171Ter) c.564C>G (p.Tyr188Ter) c.642C>G (p.Tyr214Ter) c.435C>G (p.Tyr145Ter) | |
| 5 | g.37815696G>T | CA359613749 | GDNF | c.591C>A (p.Tyr197Ter) c.513C>A (p.Tyr171Ter) c.564C>A (p.Tyr188Ter) c.642C>A (p.Tyr214Ter) c.435C>A (p.Tyr145Ter) | |
| 5 | g.37815697T>A | CA359613750 | GDNF | c.590A>T (p.Tyr197Phe) c.512A>T (p.Tyr171Phe) c.563A>T (p.Tyr188Phe) c.641A>T (p.Tyr214Phe) c.434A>T (p.Tyr145Phe) | |
| 5 | g.37815697T>C | CA359613751 | GDNF | c.590A>G (p.Tyr197Cys) c.512A>G (p.Tyr171Cys) c.563A>G (p.Tyr188Cys) c.641A>G (p.Tyr214Cys) c.434A>G (p.Tyr145Cys) | |
| 5 | g.37815697T>G | CA359613752 | GDNF | c.590A>C (p.Tyr197Ser) c.512A>C (p.Tyr171Ser) c.563A>C (p.Tyr188Ser) c.641A>C (p.Tyr214Ser) c.434A>C (p.Tyr145Ser) | |
| 5 | g.37815698A= | CA1539962851 | GDNF | c.589T= (p.Tyr197=) c.511T= (p.Tyr171=) c.562T= (p.Tyr188=) c.640T= (p.Tyr214=) c.433T= (p.Tyr145=) | |
| 5 | g.37815698A>C | CA359613755 | GDNF | c.589T>G (p.Tyr197Asp) c.511T>G (p.Tyr171Asp) c.562T>G (p.Tyr188Asp) c.640T>G (p.Tyr214Asp) c.433T>G (p.Tyr145Asp) | |
| 5 | g.37815698A>G | CA359613754 | GDNF | c.589T>C (p.Tyr197His) c.511T>C (p.Tyr171His) c.562T>C (p.Tyr188His) c.640T>C (p.Tyr214His) c.433T>C (p.Tyr145His) | dbSNP gnomAD v2 |
| 5 | g.37815698A>T | CA359613753 | GDNF | c.589T>A (p.Tyr197Asn) c.511T>A (p.Tyr171Asn) c.562T>A (p.Tyr188Asn) c.640T>A (p.Tyr214Asn) c.433T>A (p.Tyr145Asn) | |
| 5 | g.37815699A= | CA1539962856 | GDNF | c.588T= (p.Val196=) c.510T= (p.Val170=) c.561T= (p.Val187=) c.639T= (p.Val213=) c.432T= (p.Val144=) | |
| 5 | g.37815699A>C | CA444019490 | GDNF | c.588T>G (p.Val196=) c.510T>G (p.Val170=) c.561T>G (p.Val187=) c.639T>G (p.Val213=) c.432T>G (p.Val144=) | |
| 5 | g.37815699A>G | CA444019491 | GDNF | c.588T>C (p.Val196=) c.510T>C (p.Val170=) c.561T>C (p.Val187=) c.639T>C (p.Val213=) c.432T>C (p.Val144=) | dbSNP |
| 5 | g.37815699A>T | CA444019493 | GDNF | c.588T>A (p.Val196=) c.510T>A (p.Val170=) c.561T>A (p.Val187=) c.639T>A (p.Val213=) c.432T>A (p.Val144=) | |
| 5 | g.37815700A>C | CA359613756 | GDNF | c.587T>G (p.Val196Gly) c.509T>G (p.Val170Gly) c.560T>G (p.Val187Gly) c.638T>G (p.Val213Gly) c.431T>G (p.Val144Gly) | |
| 5 | g.37815700A>G | CA359613757 | GDNF | c.587T>C (p.Val196Ala) c.509T>C (p.Val170Ala) c.560T>C (p.Val187Ala) c.638T>C (p.Val213Ala) c.431T>C (p.Val144Ala) | |
| 5 | g.37815700A>T | CA359613758 | GDNF | c.587T>A (p.Val196Asp) c.509T>A (p.Val170Asp) c.560T>A (p.Val187Asp) c.638T>A (p.Val213Asp) c.431T>A (p.Val144Asp) | gnomAD v4 |
| 5 | g.37815701C>A | CA3241164 | GDNF | c.586G>T (p.Val196Phe) c.508G>T (p.Val170Phe) c.559G>T (p.Val187Phe) c.637G>T (p.Val213Phe) c.430G>T (p.Val144Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815701C= | CA1539962861 | GDNF | c.586G= (p.Val196=) c.508G= (p.Val170=) c.559G= (p.Val187=) c.637G= (p.Val213=) c.430G= (p.Val144=) | |
| 5 | g.37815701C>G | CA359613759 | GDNF | c.586G>C (p.Val196Leu) c.508G>C (p.Val170Leu) c.559G>C (p.Val187Leu) c.637G>C (p.Val213Leu) c.430G>C (p.Val144Leu) | |
| 5 | g.37815701C>T | CA359613760 | GDNF | c.586G>A (p.Val196Ile) c.508G>A (p.Val170Ile) c.559G>A (p.Val187Ile) c.637G>A (p.Val213Ile) c.430G>A (p.Val144Ile) | |
| 5 | g.37815702C>A | CA444019501 | GDNF | c.585G>T (p.Leu195=) c.507G>T (p.Leu169=) c.558G>T (p.Leu186=) c.636G>T (p.Leu212=) c.429G>T (p.Leu143=) | |
| 5 | g.37815702C>G | CA444019503 | GDNF | c.585G>C (p.Leu195=) c.507G>C (p.Leu169=) c.558G>C (p.Leu186=) c.636G>C (p.Leu212=) c.429G>C (p.Leu143=) | |
| 5 | g.37815702C>T | CA444019505 | GDNF | c.585G>A (p.Leu195=) c.507G>A (p.Leu169=) c.558G>A (p.Leu186=) c.636G>A (p.Leu212=) c.429G>A (p.Leu143=) | gnomAD v4 |
| 5 | g.37815703A>C | CA359613761 | GDNF | c.584T>G (p.Leu195Arg) c.506T>G (p.Leu169Arg) c.557T>G (p.Leu186Arg) c.635T>G (p.Leu212Arg) c.428T>G (p.Leu143Arg) | |
| 5 | g.37815703A>G | CA359613762 | GDNF | c.584T>C (p.Leu195Pro) c.506T>C (p.Leu169Pro) c.557T>C (p.Leu186Pro) c.635T>C (p.Leu212Pro) c.428T>C (p.Leu143Pro) | |
| 5 | g.37815703A>T | CA359613763 | GDNF | c.584T>A (p.Leu195Gln) c.506T>A (p.Leu169Gln) c.557T>A (p.Leu186Gln) c.635T>A (p.Leu212Gln) c.428T>A (p.Leu143Gln) | |
| 5 | g.37815704G>A | CA444019510 | GDNF | c.583C>T (p.Leu195=) c.505C>T (p.Leu169=) c.556C>T (p.Leu186=) c.634C>T (p.Leu212=) c.427C>T (p.Leu143=) | |
| 5 | g.37815704G>C | CA359613764 | GDNF | c.583C>G (p.Leu195Val) c.505C>G (p.Leu169Val) c.556C>G (p.Leu186Val) c.634C>G (p.Leu212Val) c.427C>G (p.Leu143Val) | gnomAD v4 |
| 5 | g.37815704G>T | CA359613765 | GDNF | c.583C>A (p.Leu195Met) c.505C>A (p.Leu169Met) c.556C>A (p.Leu186Met) c.634C>A (p.Leu212Met) c.427C>A (p.Leu143Met) | |
| 5 | g.37815705G>A | CA444019514 | GDNF | c.582C>T (p.Asn194=) c.504C>T (p.Asn168=) c.555C>T (p.Asn185=) c.633C>T (p.Asn211=) c.426C>T (p.Asn142=) | |
| 5 | g.37815705G>C | CA3241165 | GDNF | c.582C>G (p.Asn194Lys) c.504C>G (p.Asn168Lys) c.555C>G (p.Asn185Lys) c.633C>G (p.Asn211Lys) c.426C>G (p.Asn142Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37815705G= | CA1539962869 | GDNF | c.582C= (p.Asn194=) c.504C= (p.Asn168=) c.555C= (p.Asn185=) c.633C= (p.Asn211=) c.426C= (p.Asn142=) | |
| 5 | g.37815705G>T | CA359613766 | GDNF | c.582C>A (p.Asn194Lys) c.504C>A (p.Asn168Lys) c.555C>A (p.Asn185Lys) c.633C>A (p.Asn211Lys) c.426C>A (p.Asn142Lys) | gnomAD v4 |
| 5 | g.37815706T>A | CA359613768 | GDNF | c.581A>T (p.Asn194Ile) c.503A>T (p.Asn168Ile) c.554A>T (p.Asn185Ile) c.632A>T (p.Asn211Ile) c.425A>T (p.Asn142Ile) | |
| 5 | g.37815706T>C | CA359613769 | GDNF | c.581A>G (p.Asn194Ser) c.503A>G (p.Asn168Ser) c.554A>G (p.Asn185Ser) c.632A>G (p.Asn211Ser) c.425A>G (p.Asn142Ser) | |
| 5 | g.37815706T>G | CA359613767 | GDNF | c.581A>C (p.Asn194Thr) c.503A>C (p.Asn168Thr) c.554A>C (p.Asn185Thr) c.632A>C (p.Asn211Thr) c.425A>C (p.Asn142Thr) | |
| 5 | g.37815707T>A | CA359613770 | GDNF | c.580A>T (p.Asn194Tyr) c.502A>T (p.Asn168Tyr) c.553A>T (p.Asn185Tyr) c.631A>T (p.Asn211Tyr) c.424A>T (p.Asn142Tyr) | |
| 5 | g.37815707T>C | CA359613771 | GDNF | c.580A>G (p.Asn194Asp) c.502A>G (p.Asn168Asp) c.553A>G (p.Asn185Asp) c.631A>G (p.Asn211Asp) c.424A>G (p.Asn142Asp) | |
| 5 | g.37815707T>G | CA359613772 | GDNF | c.580A>C (p.Asn194His) c.502A>C (p.Asn168His) c.553A>C (p.Asn185His) c.631A>C (p.Asn211His) c.424A>C (p.Asn142His) | |
| 5 | g.37815708A>C | CA359613773 | GDNF | c.579T>G (p.Asp193Glu) c.501T>G (p.Asp167Glu) c.552T>G (p.Asp184Glu) c.630T>G (p.Asp210Glu) c.423T>G (p.Asp141Glu) | |
| 5 | g.37815708A>G | CA444019526 | GDNF | c.579T>C (p.Asp193=) c.501T>C (p.Asp167=) c.552T>C (p.Asp184=) c.630T>C (p.Asp210=) c.423T>C (p.Asp141=) | gnomAD v4 |
| 5 | g.37815708A>T | CA359613774 | GDNF | c.579T>A (p.Asp193Glu) c.501T>A (p.Asp167Glu) c.552T>A (p.Asp184Glu) c.630T>A (p.Asp210Glu) c.423T>A (p.Asp141Glu) | |
| 5 | g.37815709T>A | CA359613775 | GDNF | c.578A>T (p.Asp193Val) c.500A>T (p.Asp167Val) c.551A>T (p.Asp184Val) c.629A>T (p.Asp210Val) c.422A>T (p.Asp141Val) | |
| 5 | g.37815709T>C | CA359613776 | GDNF | c.578A>G (p.Asp193Gly) c.500A>G (p.Asp167Gly) c.551A>G (p.Asp184Gly) c.629A>G (p.Asp210Gly) c.422A>G (p.Asp141Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37815709T>G | CA359613777 | GDNF | c.578A>C (p.Asp193Ala) c.500A>C (p.Asp167Ala) c.551A>C (p.Asp184Ala) c.629A>C (p.Asp210Ala) c.422A>C (p.Asp141Ala) | |
| 5 | g.37815709T= | CA1539962876 | GDNF | c.578A= (p.Asp193=) c.500A= (p.Asp167=) c.551A= (p.Asp184=) c.629A= (p.Asp210=) c.422A= (p.Asp141=) | |
| 5 | g.37815710C>A | CA359613778 | GDNF | c.577G>T (p.Asp193Tyr) c.499G>T (p.Asp167Tyr) c.550G>T (p.Asp184Tyr) c.628G>T (p.Asp210Tyr) c.421G>T (p.Asp141Tyr) | gnomAD v4 |
| 5 | g.37815710C>G | CA359613780 | GDNF | c.577G>C (p.Asp193His) c.499G>C (p.Asp167His) c.550G>C (p.Asp184His) c.628G>C (p.Asp210His) c.421G>C (p.Asp141His) | |
| 5 | g.37815710C>T | CA359613779 | GDNF | c.577G>A (p.Asp193Asn) c.499G>A (p.Asp167Asn) c.550G>A (p.Asp184Asn) c.628G>A (p.Asp210Asn) c.421G>A (p.Asp141Asn) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37815711A= | CA1539962883 | GDNF | c.576T= (p.Asp192=) c.498T= (p.Asp166=) c.549T= (p.Asp183=) c.627T= (p.Asp209=) c.420T= (p.Asp140=) | |
| 5 | g.37815711A>C | CA359613781 | GDNF | c.576T>G (p.Asp192Glu) c.498T>G (p.Asp166Glu) c.549T>G (p.Asp183Glu) c.627T>G (p.Asp209Glu) c.420T>G (p.Asp140Glu) | |
| 5 | g.37815711A>G | CA444019535 | GDNF | c.576T>C (p.Asp192=) c.498T>C (p.Asp166=) c.549T>C (p.Asp183=) c.627T>C (p.Asp209=) c.420T>C (p.Asp140=) | dbSNP |
| 5 | g.37815711A>T | CA359613782 | GDNF | c.576T>A (p.Asp192Glu) c.498T>A (p.Asp166Glu) c.549T>A (p.Asp183Glu) c.627T>A (p.Asp209Glu) c.420T>A (p.Asp140Glu) | |
| 5 | g.37815712T>A | CA359613783 | GDNF | c.575A>T (p.Asp192Val) c.497A>T (p.Asp166Val) c.548A>T (p.Asp183Val) c.626A>T (p.Asp209Val) c.419A>T (p.Asp140Val) | |
| 5 | g.37815712T>C | CA359613784 | GDNF | c.575A>G (p.Asp192Gly) c.497A>G (p.Asp166Gly) c.548A>G (p.Asp183Gly) c.626A>G (p.Asp209Gly) c.419A>G (p.Asp140Gly) | |
| 5 | g.37815712T>G | CA359613785 | GDNF | c.575A>C (p.Asp192Ala) c.497A>C (p.Asp166Ala) c.548A>C (p.Asp183Ala) c.626A>C (p.Asp209Ala) c.419A>C (p.Asp140Ala) | |
| 5 | g.37815713C>A | CA359613786 | GDNF | c.574G>T (p.Asp192Tyr) c.496G>T (p.Asp166Tyr) c.547G>T (p.Asp183Tyr) c.625G>T (p.Asp209Tyr) c.418G>T (p.Asp140Tyr) | gnomAD v4 |
| 5 | g.37815713C>G | CA359613788 | GDNF | c.574G>C (p.Asp192His) c.496G>C (p.Asp166His) c.547G>C (p.Asp183His) c.625G>C (p.Asp209His) c.418G>C (p.Asp140His) | |
| 5 | g.37815713C>T | CA359613787 | GDNF | c.574G>A (p.Asp192Asn) c.496G>A (p.Asp166Asn) c.547G>A (p.Asp183Asn) c.625G>A (p.Asp209Asn) c.418G>A (p.Asp140Asn) | |
| 5 | g.37815714T>A | CA359613789 | GDNF | c.573A>T (p.Leu191Phe) c.495A>T (p.Leu165Phe) c.546A>T (p.Leu182Phe) c.624A>T (p.Leu208Phe) c.417A>T (p.Leu139Phe) | |
| 5 | g.37815714T>C | CA444019545 | GDNF | c.573A>G (p.Leu191=) c.495A>G (p.Leu165=) c.546A>G (p.Leu182=) c.624A>G (p.Leu208=) c.417A>G (p.Leu139=) | |
| 5 | g.37815714T>G | CA359613790 | GDNF | c.573A>C (p.Leu191Phe) c.495A>C (p.Leu165Phe) c.546A>C (p.Leu182Phe) c.624A>C (p.Leu208Phe) c.417A>C (p.Leu139Phe) | |
| 5 | g.37815715A= | CA1539962884 | GDNF | c.572T= (p.Leu191=) c.494T= (p.Leu165=) c.545T= (p.Leu182=) c.623T= (p.Leu208=) c.416T= (p.Leu139=) | |
| 5 | g.37815715A>C | CA359613791 | GDNF | c.572T>G (p.Leu191Ter) c.494T>G (p.Leu165Ter) c.545T>G (p.Leu182Ter) c.623T>G (p.Leu208Ter) c.416T>G (p.Leu139Ter) | |
| 5 | g.37815715A>G | CA359613792 | GDNF | c.572T>C (p.Leu191Ser) c.494T>C (p.Leu165Ser) c.545T>C (p.Leu182Ser) c.623T>C (p.Leu208Ser) c.416T>C (p.Leu139Ser) | dbSNP |
| 5 | g.37815715A>T | CA359613793 | GDNF | c.572T>A (p.Leu191Ter) c.494T>A (p.Leu165Ter) c.545T>A (p.Leu182Ter) c.623T>A (p.Leu208Ter) c.416T>A (p.Leu139Ter) | |
| 5 | g.37815719del | CA645558137 | GDNF | c.572del (p.Leu191Ter) c.494del (p.Leu165Ter) c.545del (p.Leu182Ter) c.623del (p.Leu208Ter) c.416del (p.Leu139Ter) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37815716A>C | CA359613794 | GDNF | c.571T>G (p.Leu191Val) c.493T>G (p.Leu165Val) c.544T>G (p.Leu182Val) c.622T>G (p.Leu208Val) c.415T>G (p.Leu139Val) | |
| 5 | g.37815716A>G | CA444019554 | GDNF | c.571T>C (p.Leu191=) c.493T>C (p.Leu165=) c.544T>C (p.Leu182=) c.622T>C (p.Leu208=) c.415T>C (p.Leu139=) | gnomAD v4 |
| 5 | g.37815716A>T | CA359613795 | GDNF | c.571T>A (p.Leu191Ile) c.493T>A (p.Leu165Ile) c.544T>A (p.Leu182Ile) c.622T>A (p.Leu208Ile) c.415T>A (p.Leu139Ile) | |
| 5 | g.37815717A>C | CA359613796 | GDNF | c.570T>G (p.Phe190Leu) c.492T>G (p.Phe164Leu) c.543T>G (p.Phe181Leu) c.621T>G (p.Phe207Leu) c.414T>G (p.Phe138Leu) | |
| 5 | g.37815717A>G | CA444019558 | GDNF | c.570T>C (p.Phe190=) c.492T>C (p.Phe164=) c.543T>C (p.Phe181=) c.621T>C (p.Phe207=) c.414T>C (p.Phe138=) | |
| 5 | g.37815717A>T | CA359613797 | GDNF | c.570T>A (p.Phe190Leu) c.492T>A (p.Phe164Leu) c.543T>A (p.Phe181Leu) c.621T>A (p.Phe207Leu) c.414T>A (p.Phe138Leu) | |
| 5 | g.37815718A>C | CA359613798 | GDNF | c.569T>G (p.Phe190Cys) c.491T>G (p.Phe164Cys) c.542T>G (p.Phe181Cys) c.620T>G (p.Phe207Cys) c.413T>G (p.Phe138Cys) | ClinVar |
| 5 | g.37815718A>G | CA359613799 | GDNF | c.569T>C (p.Phe190Ser) c.491T>C (p.Phe164Ser) c.542T>C (p.Phe181Ser) c.620T>C (p.Phe207Ser) c.413T>C (p.Phe138Ser) | |
| 5 | g.37815718A>T | CA359613800 | GDNF | c.569T>A (p.Phe190Tyr) c.491T>A (p.Phe164Tyr) c.542T>A (p.Phe181Tyr) c.620T>A (p.Phe207Tyr) c.413T>A (p.Phe138Tyr) | |
| 5 | g.37815719A>C | CA359613801 | GDNF | c.568T>G (p.Phe190Val) c.490T>G (p.Phe164Val) c.541T>G (p.Phe181Val) c.619T>G (p.Phe207Val) c.412T>G (p.Phe138Val) | |
| 5 | g.37815719A>G | CA359613803 | GDNF | c.568T>C (p.Phe190Leu) c.490T>C (p.Phe164Leu) c.541T>C (p.Phe181Leu) c.619T>C (p.Phe207Leu) c.412T>C (p.Phe138Leu) | |
| 5 | g.37815719A>T | CA359613802 | GDNF | c.568T>A (p.Phe190Ile) c.490T>A (p.Phe164Ile) c.541T>A (p.Phe181Ile) c.619T>A (p.Phe207Ile) c.412T>A (p.Phe138Ile) | |
| 5 | g.37815720C>A | CA444019565 | GDNF | c.567G>T (p.Ser189=) c.489G>T (p.Ser163=) c.540G>T (p.Ser180=) c.618G>T (p.Ser206=) c.411G>T (p.Ser137=) | |
| 5 | g.37815720C= | CA1539962887 | GDNF | c.567G= (p.Ser189=) c.489G= (p.Ser163=) c.540G= (p.Ser180=) c.618G= (p.Ser206=) c.411G= (p.Ser137=) | |
| 5 | g.37815720C>G | CA444019568 | GDNF | c.567G>C (p.Ser189=) c.489G>C (p.Ser163=) c.540G>C (p.Ser180=) c.618G>C (p.Ser206=) c.411G>C (p.Ser137=) | |
| 5 | g.37815720C>T | CA117493063 | GDNF | c.567G>A (p.Ser189=) c.489G>A (p.Ser163=) c.540G>A (p.Ser180=) c.618G>A (p.Ser206=) c.411G>A (p.Ser137=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815721G>A | CA117493064 | GDNF | c.566C>T (p.Ser189Leu) c.488C>T (p.Ser163Leu) c.539C>T (p.Ser180Leu) c.617C>T (p.Ser206Leu) c.410C>T (p.Ser137Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37815721G>C | CA359613804 | GDNF | c.566C>G (p.Ser189Trp) c.488C>G (p.Ser163Trp) c.539C>G (p.Ser180Trp) c.617C>G (p.Ser206Trp) c.410C>G (p.Ser137Trp) | gnomAD v4 |
| 5 | g.37815721G= | CA1539962892 | GDNF | c.566C= (p.Ser189=) c.488C= (p.Ser163=) c.539C= (p.Ser180=) c.617C= (p.Ser206=) c.410C= (p.Ser137=) | |
| 5 | g.37815721G>T | CA359613805 | GDNF | c.566C>A (p.Ser189Ter) c.488C>A (p.Ser163Ter) c.539C>A (p.Ser180Ter) c.617C>A (p.Ser206Ter) c.410C>A (p.Ser137Ter) | |
| 5 | g.37815722A= | CA1539962897 | GDNF | c.565T= (p.Ser189=) c.487T= (p.Ser163=) c.538T= (p.Ser180=) c.616T= (p.Ser206=) c.409T= (p.Ser137=) | |
| 5 | g.37815722A>C | CA359613806 | GDNF | c.565T>G (p.Ser189Ala) c.487T>G (p.Ser163Ala) c.538T>G (p.Ser180Ala) c.616T>G (p.Ser206Ala) c.409T>G (p.Ser137Ala) | |
| 5 | g.37815722A>G | CA3241166 | GDNF | c.565T>C (p.Ser189Pro) c.487T>C (p.Ser163Pro) c.538T>C (p.Ser180Pro) c.616T>C (p.Ser206Pro) c.409T>C (p.Ser137Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37815722A>T | CA359613807 | GDNF | c.565T>A (p.Ser189Thr) c.487T>A (p.Ser163Thr) c.538T>A (p.Ser180Thr) c.616T>A (p.Ser206Thr) c.409T>A (p.Ser137Thr) | gnomAD v4 |
| 5 | g.37815723C>A | CA444019575 | GDNF | c.564G>T (p.Leu188=) c.486G>T (p.Leu162=) c.537G>T (p.Leu179=) c.615G>T (p.Leu205=) c.408G>T (p.Leu136=) | |
| 5 | g.37815723C= | CA1539962902 | GDNF | c.564G= (p.Leu188=) c.486G= (p.Leu162=) c.537G= (p.Leu179=) c.615G= (p.Leu205=) c.408G= (p.Leu136=) | |
| 5 | g.37815723C>G | CA3241167 | GDNF | c.564G>C (p.Leu188=) c.486G>C (p.Leu162=) c.537G>C (p.Leu179=) c.615G>C (p.Leu205=) c.408G>C (p.Leu136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815723C>T | CA444019579 | GDNF | c.564G>A (p.Leu188=) c.486G>A (p.Leu162=) c.537G>A (p.Leu179=) c.615G>A (p.Leu205=) c.408G>A (p.Leu136=) | |
| 5 | g.37815724A>C | CA359613808 | GDNF | c.563T>G (p.Leu188Arg) c.485T>G (p.Leu162Arg) c.536T>G (p.Leu179Arg) c.614T>G (p.Leu205Arg) c.407T>G (p.Leu136Arg) | |
| 5 | g.37815724A>G | CA359613809 | GDNF | c.563T>C (p.Leu188Pro) c.485T>C (p.Leu162Pro) c.536T>C (p.Leu179Pro) c.614T>C (p.Leu205Pro) c.407T>C (p.Leu136Pro) | |
| 5 | g.37815724A>T | CA359613810 | GDNF | c.563T>A (p.Leu188Gln) c.485T>A (p.Leu162Gln) c.536T>A (p.Leu179Gln) c.614T>A (p.Leu205Gln) c.407T>A (p.Leu136Gln) | |
| 5 | g.37815725G>A | CA444019583 | GDNF | c.562C>T (p.Leu188=) c.484C>T (p.Leu162=) c.535C>T (p.Leu179=) c.613C>T (p.Leu205=) c.406C>T (p.Leu136=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815725G>C | CA359613811 | GDNF | c.562C>G (p.Leu188Val) c.484C>G (p.Leu162Val) c.535C>G (p.Leu179Val) c.613C>G (p.Leu205Val) c.406C>G (p.Leu136Val) | |
| 5 | g.37815725G= | CA1539962908 | GDNF | c.562C= (p.Leu188=) c.484C= (p.Leu162=) c.535C= (p.Leu179=) c.613C= (p.Leu205=) c.406C= (p.Leu136=) | |
| 5 | g.37815725G>T | CA359613812 | GDNF | c.562C>A (p.Leu188Met) c.484C>A (p.Leu162Met) c.535C>A (p.Leu179Met) c.613C>A (p.Leu205Met) c.406C>A (p.Leu136Met) | |
| 5 | g.37815726G>A | CA444019587 | GDNF | c.561C>T (p.Asp187=) c.483C>T (p.Asp161=) c.534C>T (p.Asp178=) c.612C>T (p.Asp204=) c.405C>T (p.Asp135=) | gnomAD v4 |
| 5 | g.37815726G>C | CA359613814 | GDNF | c.561C>G (p.Asp187Glu) c.483C>G (p.Asp161Glu) c.534C>G (p.Asp178Glu) c.612C>G (p.Asp204Glu) c.405C>G (p.Asp135Glu) | |
| 5 | g.37815726G>T | CA359613813 | GDNF | c.561C>A (p.Asp187Glu) c.483C>A (p.Asp161Glu) c.534C>A (p.Asp178Glu) c.612C>A (p.Asp204Glu) c.405C>A (p.Asp135Glu) | dbSNP |
| 5 | g.37815726_37815728del | CA2673608545 | GDNF | c.559_561del (p.Asp187del) c.481_483del (p.Asp161del) c.532_534del (p.Asp178del) c.610_612del (p.Asp204del) c.403_405del (p.Asp135del) | gnomAD v4 |
| 5 | g.37815727T>A | CA359613815 | GDNF | c.560A>T (p.Asp187Val) c.482A>T (p.Asp161Val) c.533A>T (p.Asp178Val) c.611A>T (p.Asp204Val) c.404A>T (p.Asp135Val) | gnomAD v4 |
| 5 | g.37815727T>C | CA359613816 | GDNF | c.560A>G (p.Asp187Gly) c.482A>G (p.Asp161Gly) c.533A>G (p.Asp178Gly) c.611A>G (p.Asp204Gly) c.404A>G (p.Asp135Gly) | |
| 5 | g.37815727T>G | CA359613817 | GDNF | c.560A>C (p.Asp187Ala) c.482A>C (p.Asp161Ala) c.533A>C (p.Asp178Ala) c.611A>C (p.Asp204Ala) c.404A>C (p.Asp135Ala) | |
| 5 | g.37815728C>A | CA359613818 | GDNF | c.559G>T (p.Asp187Tyr) c.481G>T (p.Asp161Tyr) c.532G>T (p.Asp178Tyr) c.610G>T (p.Asp204Tyr) c.403G>T (p.Asp135Tyr) | gnomAD v4 |
| 5 | g.37815728C= | CA1539962912 | GDNF | c.559G= (p.Asp187=) c.481G= (p.Asp161=) c.532G= (p.Asp178=) c.610G= (p.Asp204=) c.403G= (p.Asp135=) | |
| 5 | g.37815728C>G | CA359613819 | GDNF | c.559G>C (p.Asp187His) c.481G>C (p.Asp161His) c.532G>C (p.Asp178His) c.610G>C (p.Asp204His) c.403G>C (p.Asp135His) | |
| 5 | g.37815728C>T | CA3241168 | GDNF | c.559G>A (p.Asp187Asn) c.481G>A (p.Asp161Asn) c.532G>A (p.Asp178Asn) c.610G>A (p.Asp204Asn) c.403G>A (p.Asp135Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37815729A= | CA1539962918 | GDNF | c.558T= (p.Asp186=) c.480T= (p.Asp160=) c.531T= (p.Asp177=) c.609T= (p.Asp203=) c.402T= (p.Asp134=) | |
| 5 | g.37815729A>C | CA3241170 | GDNF | c.558T>G (p.Asp186Glu) c.480T>G (p.Asp160Glu) c.531T>G (p.Asp177Glu) c.609T>G (p.Asp203Glu) c.402T>G (p.Asp134Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.37815729A>G | CA3241169 | GDNF | c.558T>C (p.Asp186=) c.480T>C (p.Asp160=) c.531T>C (p.Asp177=) c.609T>C (p.Asp203=) c.402T>C (p.Asp134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37815729A>T | CA359613820 | GDNF | c.558T>A (p.Asp186Glu) c.480T>A (p.Asp160Glu) c.531T>A (p.Asp177Glu) c.609T>A (p.Asp203Glu) c.402T>A (p.Asp134Glu) | |
| 5 | g.37815730T>A | CA359613821 | GDNF | c.557A>T (p.Asp186Val) c.479A>T (p.Asp160Val) c.530A>T (p.Asp177Val) c.608A>T (p.Asp203Val) c.401A>T (p.Asp134Val) | |
| 5 | g.37815730T>C | CA359613822 | GDNF | c.557A>G (p.Asp186Gly) c.479A>G (p.Asp160Gly) c.530A>G (p.Asp177Gly) c.608A>G (p.Asp203Gly) c.401A>G (p.Asp134Gly) | |
| 5 | g.37815730T>G | CA359613823 | GDNF | c.557A>C (p.Asp186Ala) c.479A>C (p.Asp160Ala) c.530A>C (p.Asp177Ala) c.608A>C (p.Asp203Ala) c.401A>C (p.Asp134Ala) | |
| 5 | g.37815731C>A | CA359613824 | GDNF | c.556G>T (p.Asp186Tyr) c.478G>T (p.Asp160Tyr) c.529G>T (p.Asp177Tyr) c.607G>T (p.Asp203Tyr) c.400G>T (p.Asp134Tyr) | |
| 5 | g.37815731C= | CA1539962931 | GDNF | c.556G= (p.Asp186=) c.478G= (p.Asp160=) c.529G= (p.Asp177=) c.607G= (p.Asp203=) c.400G= (p.Asp134=) | |
| 5 | g.37815731C>G | CA359613826 | GDNF | c.556G>C (p.Asp186His) c.478G>C (p.Asp160His) c.529G>C (p.Asp177His) c.607G>C (p.Asp203His) c.400G>C (p.Asp134His) | |
| 5 | g.37815731C>T | CA359613825 | GDNF | c.556G>A (p.Asp186Asn) c.478G>A (p.Asp160Asn) c.529G>A (p.Asp177Asn) c.607G>A (p.Asp203Asn) c.400G>A (p.Asp134Asn) | dbSNP |
| 5 | g.37815732A= | CA1539962933 | GDNF | c.555T= (p.Asp185=) c.477T= (p.Asp159=) c.528T= (p.Asp176=) c.606T= (p.Asp202=) c.399T= (p.Asp133=) | |
| 5 | g.37815732A>C | CA359613827 | GDNF | c.555T>G (p.Asp185Glu) c.477T>G (p.Asp159Glu) c.528T>G (p.Asp176Glu) c.606T>G (p.Asp202Glu) c.399T>G (p.Asp133Glu) | |
| 5 | g.37815732A>G | CA444103433 | GDNF | c.555T>C (p.Asp185=) c.477T>C (p.Asp159=) c.528T>C (p.Asp176=) c.606T>C (p.Asp202=) c.399T>C (p.Asp133=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815732A>T | CA359613828 | GDNF | c.555T>A (p.Asp185Glu) c.477T>A (p.Asp159Glu) c.528T>A (p.Asp176Glu) c.606T>A (p.Asp202Glu) c.399T>A (p.Asp133Glu) | |
| 5 | g.37815733T>A | CA359613829 | GDNF | c.554A>T (p.Asp185Val) c.476A>T (p.Asp159Val) c.527A>T (p.Asp176Val) c.605A>T (p.Asp202Val) c.398A>T (p.Asp133Val) | |
| 5 | g.37815733T>C | CA117493065 | GDNF | c.554A>G (p.Asp185Gly) c.476A>G (p.Asp159Gly) c.527A>G (p.Asp176Gly) c.605A>G (p.Asp202Gly) c.398A>G (p.Asp133Gly) | dbSNP |
| 5 | g.37815733T>G | CA359613830 | GDNF | c.554A>C (p.Asp185Ala) c.476A>C (p.Asp159Ala) c.527A>C (p.Asp176Ala) c.605A>C (p.Asp202Ala) c.398A>C (p.Asp133Ala) | |
| 5 | g.37815733T= | CA1539962936 | GDNF | c.554A= (p.Asp185=) c.476A= (p.Asp159=) c.527A= (p.Asp176=) c.605A= (p.Asp202=) c.398A= (p.Asp133=) | |
| 5 | g.37815734C>A | CA359613831 | GDNF | c.553G>T (p.Asp185Tyr) c.475G>T (p.Asp159Tyr) c.526G>T (p.Asp176Tyr) c.604G>T (p.Asp202Tyr) c.397G>T (p.Asp133Tyr) | |
| 5 | g.37815734C>G | CA359613832 | GDNF | c.553G>C (p.Asp185His) c.475G>C (p.Asp159His) c.526G>C (p.Asp176His) c.604G>C (p.Asp202His) c.397G>C (p.Asp133His) | |
| 5 | g.37815734C>T | CA359613833 | GDNF | c.553G>A (p.Asp185Asn) c.475G>A (p.Asp159Asn) c.526G>A (p.Asp176Asn) c.604G>A (p.Asp202Asn) c.397G>A (p.Asp133Asn) | |
| 5 | g.37815735A= | CA1539962940 | GDNF | c.552T= (p.Phe184=) c.474T= (p.Phe158=) c.525T= (p.Phe175=) c.603T= (p.Phe201=) c.396T= (p.Phe132=) | |
| 5 | g.37815735A>C | CA359613834 | GDNF | c.552T>G (p.Phe184Leu) c.474T>G (p.Phe158Leu) c.525T>G (p.Phe175Leu) c.603T>G (p.Phe201Leu) c.396T>G (p.Phe132Leu) | |
| 5 | g.37815735A>G | CA444103437 | GDNF | c.552T>C (p.Phe184=) c.474T>C (p.Phe158=) c.525T>C (p.Phe175=) c.603T>C (p.Phe201=) c.396T>C (p.Phe132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815735A>T | CA359613835 | GDNF | c.552T>A (p.Phe184Leu) c.474T>A (p.Phe158Leu) c.525T>A (p.Phe175Leu) c.603T>A (p.Phe201Leu) c.396T>A (p.Phe132Leu) | |
| 5 | g.37815736A>C | CA359613836 | GDNF | c.551T>G (p.Phe184Cys) c.473T>G (p.Phe158Cys) c.524T>G (p.Phe175Cys) c.602T>G (p.Phe201Cys) c.395T>G (p.Phe132Cys) | |
| 5 | g.37815736A>G | CA359613837 | GDNF | c.551T>C (p.Phe184Ser) c.473T>C (p.Phe158Ser) c.524T>C (p.Phe175Ser) c.602T>C (p.Phe201Ser) c.395T>C (p.Phe132Ser) | |
| 5 | g.37815736A>T | CA359613838 | GDNF | c.551T>A (p.Phe184Tyr) c.473T>A (p.Phe158Tyr) c.524T>A (p.Phe175Tyr) c.602T>A (p.Phe201Tyr) c.395T>A (p.Phe132Tyr) | |
| 5 | g.37815737A>C | CA359613841 | GDNF | c.550T>G (p.Phe184Val) c.472T>G (p.Phe158Val) c.523T>G (p.Phe175Val) c.601T>G (p.Phe201Val) c.394T>G (p.Phe132Val) | |
| 5 | g.37815737A>G | CA359613839 | GDNF | c.550T>C (p.Phe184Leu) c.472T>C (p.Phe158Leu) c.523T>C (p.Phe175Leu) c.601T>C (p.Phe201Leu) c.394T>C (p.Phe132Leu) | |
| 5 | g.37815737A>T | CA359613840 | GDNF | c.550T>A (p.Phe184Ile) c.472T>A (p.Phe158Ile) c.523T>A (p.Phe175Ile) c.601T>A (p.Phe201Ile) c.394T>A (p.Phe132Ile) | |
| 5 | g.37815738G>A | CA444103445 | GDNF | c.549C>T (p.Ala183=) c.471C>T (p.Ala157=) c.522C>T (p.Ala174=) c.600C>T (p.Ala200=) c.393C>T (p.Ala131=) | gnomAD v4 |
| 5 | g.37815738G>C | CA444103447 | GDNF | c.549C>G (p.Ala183=) c.471C>G (p.Ala157=) c.522C>G (p.Ala174=) c.600C>G (p.Ala200=) c.393C>G (p.Ala131=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37815738G= | CA1539962969 | GDNF | c.549C= (p.Ala183=) c.471C= (p.Ala157=) c.522C= (p.Ala174=) c.600C= (p.Ala200=) c.393C= (p.Ala131=) | |
| 5 | g.37815738G>T | CA444103448 | GDNF | c.549C>A (p.Ala183=) c.471C>A (p.Ala157=) c.522C>A (p.Ala174=) c.600C>A (p.Ala200=) c.393C>A (p.Ala131=) | |
| 5 | g.37815739G>A | CA359613842 | GDNF | c.548C>T (p.Ala183Val) c.470C>T (p.Ala157Val) c.521C>T (p.Ala174Val) c.599C>T (p.Ala200Val) c.392C>T (p.Ala131Val) | |
| 5 | g.37815739G>C | CA359613843 | GDNF | c.548C>G (p.Ala183Gly) c.470C>G (p.Ala157Gly) c.521C>G (p.Ala174Gly) c.599C>G (p.Ala200Gly) c.392C>G (p.Ala131Gly) | |
| 5 | g.37815739G>T | CA359613844 | GDNF | c.548C>A (p.Ala183Asp) c.470C>A (p.Ala157Asp) c.521C>A (p.Ala174Asp) c.599C>A (p.Ala200Asp) c.392C>A (p.Ala131Asp) | |
| 5 | g.37815740C>A | CA359613845 | GDNF | c.547G>T (p.Ala183Ser) c.469G>T (p.Ala157Ser) c.520G>T (p.Ala174Ser) c.598G>T (p.Ala200Ser) c.391G>T (p.Ala131Ser) | |
| 5 | g.37815740C= | CA1539963000 | GDNF | c.547G= (p.Ala183=) c.469G= (p.Ala157=) c.520G= (p.Ala174=) c.598G= (p.Ala200=) c.391G= (p.Ala131=) | |
| 5 | g.37815740C>G | CA359613846 | GDNF | c.547G>C (p.Ala183Pro) c.469G>C (p.Ala157Pro) c.520G>C (p.Ala174Pro) c.598G>C (p.Ala200Pro) c.391G>C (p.Ala131Pro) | |
| 5 | g.37815740C>T | CA3241171 | GDNF | c.547G>A (p.Ala183Thr) c.469G>A (p.Ala157Thr) c.520G>A (p.Ala174Thr) c.598G>A (p.Ala200Thr) c.391G>A (p.Ala131Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815741G>A | CA3241172 | GDNF | c.546C>T (p.Ile182=) c.468C>T (p.Ile156=) c.519C>T (p.Ile173=) c.597C>T (p.Ile199=) c.390C>T (p.Ile130=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815741G>C | CA359613847 | GDNF | c.546C>G (p.Ile182Met) c.468C>G (p.Ile156Met) c.519C>G (p.Ile173Met) c.597C>G (p.Ile199Met) c.390C>G (p.Ile130Met) | |
| 5 | g.37815741G= | CA1539963005 | GDNF | c.546C= (p.Ile182=) c.468C= (p.Ile156=) c.519C= (p.Ile173=) c.597C= (p.Ile199=) c.390C= (p.Ile130=) | |
| 5 | g.37815741G>T | CA444103454 | GDNF | c.546C>A (p.Ile182=) c.468C>A (p.Ile156=) c.519C>A (p.Ile173=) c.597C>A (p.Ile199=) c.390C>A (p.Ile130=) | gnomAD v4 |
| 5 | g.37815742A>C | CA359613848 | GDNF | c.545T>G (p.Ile182Ser) c.467T>G (p.Ile156Ser) c.518T>G (p.Ile173Ser) c.596T>G (p.Ile199Ser) c.389T>G (p.Ile130Ser) | |
| 5 | g.37815742A>G | CA359613849 | GDNF | c.545T>C (p.Ile182Thr) c.467T>C (p.Ile156Thr) c.518T>C (p.Ile173Thr) c.596T>C (p.Ile199Thr) c.389T>C (p.Ile130Thr) | |
| 5 | g.37815742A>T | CA359613850 | GDNF | c.545T>A (p.Ile182Asn) c.467T>A (p.Ile156Asn) c.518T>A (p.Ile173Asn) c.596T>A (p.Ile199Asn) c.389T>A (p.Ile130Asn) | |
| 5 | g.37815743T>A | CA359613852 | GDNF | c.544A>T (p.Ile182Phe) c.466A>T (p.Ile156Phe) c.517A>T (p.Ile173Phe) c.595A>T (p.Ile199Phe) c.388A>T (p.Ile130Phe) | |
| 5 | g.37815743T>C | CA359613853 | GDNF | c.544A>G (p.Ile182Val) c.466A>G (p.Ile156Val) c.517A>G (p.Ile173Val) c.595A>G (p.Ile199Val) c.388A>G (p.Ile130Val) | |
| 5 | g.37815743T>G | CA359613851 | GDNF | c.544A>C (p.Ile182Leu) c.466A>C (p.Ile156Leu) c.517A>C (p.Ile173Leu) c.595A>C (p.Ile199Leu) c.388A>C (p.Ile130Leu) | |
| 5 | g.37815744G>A | CA444103461 | GDNF | c.543C>T (p.Pro181=) c.465C>T (p.Pro155=) c.516C>T (p.Pro172=) c.594C>T (p.Pro198=) c.387C>T (p.Pro129=) | gnomAD v4 |
| 5 | g.37815744G>C | CA444103462 | GDNF | c.543C>G (p.Pro181=) c.465C>G (p.Pro155=) c.516C>G (p.Pro172=) c.594C>G (p.Pro198=) c.387C>G (p.Pro129=) | |
| 5 | g.37815744G>T | CA444103464 | GDNF | c.543C>A (p.Pro181=) c.465C>A (p.Pro155=) c.516C>A (p.Pro172=) c.594C>A (p.Pro198=) c.387C>A (p.Pro129=) | |
| 5 | g.37815745G>A | CA359613854 | GDNF | c.542C>T (p.Pro181Leu) c.464C>T (p.Pro155Leu) c.515C>T (p.Pro172Leu) c.593C>T (p.Pro198Leu) c.386C>T (p.Pro129Leu) | |
| 5 | g.37815745G>C | CA359613855 | GDNF | c.542C>G (p.Pro181Arg) c.464C>G (p.Pro155Arg) c.515C>G (p.Pro172Arg) c.593C>G (p.Pro198Arg) c.386C>G (p.Pro129Arg) | |
| 5 | g.37815745G>T | CA359613856 | GDNF | c.542C>A (p.Pro181His) c.464C>A (p.Pro155His) c.515C>A (p.Pro172His) c.593C>A (p.Pro198His) c.386C>A (p.Pro129His) | |
| 5 | g.37815746G>A | CA359613857 | GDNF | c.541C>T (p.Pro181Ser) c.463C>T (p.Pro155Ser) c.514C>T (p.Pro172Ser) c.592C>T (p.Pro198Ser) c.385C>T (p.Pro129Ser) | |
| 5 | g.37815746G>C | CA359613858 | GDNF | c.541C>G (p.Pro181Ala) c.463C>G (p.Pro155Ala) c.514C>G (p.Pro172Ala) c.592C>G (p.Pro198Ala) c.385C>G (p.Pro129Ala) | |
| 5 | g.37815746G>T | CA359613859 | GDNF | c.541C>A (p.Pro181Thr) c.463C>A (p.Pro155Thr) c.514C>A (p.Pro172Thr) c.592C>A (p.Pro198Thr) c.385C>A (p.Pro129Thr) | |
| 5 | g.37815747T>A | CA359613860 | GDNF | c.540A>T (p.Arg180Ser) c.462A>T (p.Arg154Ser) c.513A>T (p.Arg171Ser) c.591A>T (p.Arg197Ser) c.384A>T (p.Arg128Ser) | |
| 5 | g.37815747T>C | CA202255 | GDNF | c.540A>G (p.Arg180=) c.462A>G (p.Arg154=) c.513A>G (p.Arg171=) c.591A>G (p.Arg197=) c.384A>G (p.Arg128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815747T>G | CA359613861 | GDNF | c.540A>C (p.Arg180Ser) c.462A>C (p.Arg154Ser) c.513A>C (p.Arg171Ser) c.591A>C (p.Arg197Ser) c.384A>C (p.Arg128Ser) | |
| 5 | g.37815747T= | CA1539963013 | GDNF | c.540A= (p.Arg180=) c.462A= (p.Arg154=) c.513A= (p.Arg171=) c.591A= (p.Arg197=) c.384A= (p.Arg128=) | |
| 5 | g.37815748C>A | CA359613862 | GDNF | c.539G>T (p.Arg180Ile) c.461G>T (p.Arg154Ile) c.512G>T (p.Arg171Ile) c.590G>T (p.Arg197Ile) c.383G>T (p.Arg128Ile) | |
| 5 | g.37815748C>G | CA359613863 | GDNF | c.539G>C (p.Arg180Thr) c.461G>C (p.Arg154Thr) c.512G>C (p.Arg171Thr) c.590G>C (p.Arg197Thr) c.383G>C (p.Arg128Thr) | |
| 5 | g.37815748C>T | CA359613864 | GDNF | c.539G>A (p.Arg180Lys) c.461G>A (p.Arg154Lys) c.512G>A (p.Arg171Lys) c.590G>A (p.Arg197Lys) c.383G>A (p.Arg128Lys) | gnomAD v4 |
| 5 | g.37815749T>A | CA359613865 | GDNF | c.538A>T (p.Arg180Ter) c.460A>T (p.Arg154Ter) c.511A>T (p.Arg171Ter) c.589A>T (p.Arg197Ter) c.382A>T (p.Arg128Ter) | |
| 5 | g.37815749T>C | CA359613866 | GDNF | c.538A>G (p.Arg180Gly) c.460A>G (p.Arg154Gly) c.511A>G (p.Arg171Gly) c.589A>G (p.Arg197Gly) c.382A>G (p.Arg128Gly) | |
| 5 | g.37815749T>G | CA444103474 | GDNF | c.538A>C (p.Arg180=) c.460A>C (p.Arg154=) c.511A>C (p.Arg171=) c.589A>C (p.Arg197=) c.382A>C (p.Arg128=) | |
| 5 | g.37815750G>A | CA444103476 | GDNF | c.537C>T (p.Cys179=) c.459C>T (p.Cys153=) c.510C>T (p.Cys170=) c.588C>T (p.Cys196=) c.381C>T (p.Cys127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815750G>C | CA359613867 | GDNF | c.537C>G (p.Cys179Trp) c.459C>G (p.Cys153Trp) c.510C>G (p.Cys170Trp) c.588C>G (p.Cys196Trp) c.381C>G (p.Cys127Trp) | |
| 5 | g.37815750G= | CA1539963021 | GDNF | c.537C= (p.Cys179=) c.459C= (p.Cys153=) c.510C= (p.Cys170=) c.588C= (p.Cys196=) c.381C= (p.Cys127=) | |
| 5 | g.37815750G>T | CA359613868 | GDNF | c.537C>A (p.Cys179Ter) c.459C>A (p.Cys153Ter) c.510C>A (p.Cys170Ter) c.588C>A (p.Cys196Ter) c.381C>A (p.Cys127Ter) | |
| 5 | g.37815751C>A | CA359613869 | GDNF | c.536G>T (p.Cys179Phe) c.458G>T (p.Cys153Phe) c.509G>T (p.Cys170Phe) c.587G>T (p.Cys196Phe) c.380G>T (p.Cys127Phe) | gnomAD v4 |
| 5 | g.37815751C>G | CA359613870 | GDNF | c.536G>C (p.Cys179Ser) c.458G>C (p.Cys153Ser) c.509G>C (p.Cys170Ser) c.587G>C (p.Cys196Ser) c.380G>C (p.Cys127Ser) | |
| 5 | g.37815751C>T | CA359613871 | GDNF | c.536G>A (p.Cys179Tyr) c.458G>A (p.Cys153Tyr) c.509G>A (p.Cys170Tyr) c.587G>A (p.Cys196Tyr) c.380G>A (p.Cys127Tyr) | |
| 5 | g.37815752A>C | CA359613872 | GDNF | c.535T>G (p.Cys179Gly) c.457T>G (p.Cys153Gly) c.508T>G (p.Cys170Gly) c.586T>G (p.Cys196Gly) c.379T>G (p.Cys127Gly) | |
| 5 | g.37815752A>G | CA359613873 | GDNF | c.535T>C (p.Cys179Arg) c.457T>C (p.Cys153Arg) c.508T>C (p.Cys170Arg) c.586T>C (p.Cys196Arg) c.379T>C (p.Cys127Arg) | |
| 5 | g.37815752A>T | CA359613874 | GDNF | c.535T>A (p.Cys179Ser) c.457T>A (p.Cys153Ser) c.508T>A (p.Cys170Ser) c.586T>A (p.Cys196Ser) c.379T>A (p.Cys127Ser) | |
| 5 | g.37815753A= | CA1539963030 | GDNF | c.534T= (p.Cys178=) c.456T= (p.Cys152=) c.507T= (p.Cys169=) c.585T= (p.Cys195=) c.378T= (p.Cys126=) | |
| 5 | g.37815753A>C | CA359613875 | GDNF | c.534T>G (p.Cys178Trp) c.456T>G (p.Cys152Trp) c.507T>G (p.Cys169Trp) c.585T>G (p.Cys195Trp) c.378T>G (p.Cys126Trp) | |
| 5 | g.37815753A>G | CA3241173 | GDNF | c.534T>C (p.Cys178=) c.456T>C (p.Cys152=) c.507T>C (p.Cys169=) c.585T>C (p.Cys195=) c.378T>C (p.Cys126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815753A>T | CA359613876 | GDNF | c.534T>A (p.Cys178Ter) c.456T>A (p.Cys152Ter) c.507T>A (p.Cys169Ter) c.585T>A (p.Cys195Ter) c.378T>A (p.Cys126Ter) | |
| 5 | g.37815754C>A | CA359613877 | GDNF | c.533G>T (p.Cys178Phe) c.455G>T (p.Cys152Phe) c.506G>T (p.Cys169Phe) c.584G>T (p.Cys195Phe) c.377G>T (p.Cys126Phe) | |
| 5 | g.37815754C= | CA1539963033 | GDNF | c.533G= (p.Cys178=) c.455G= (p.Cys152=) c.506G= (p.Cys169=) c.584G= (p.Cys195=) c.377G= (p.Cys126=) | |
| 5 | g.37815754C>G | CA359613878 | GDNF | c.533G>C (p.Cys178Ser) c.455G>C (p.Cys152Ser) c.506G>C (p.Cys169Ser) c.584G>C (p.Cys195Ser) c.377G>C (p.Cys126Ser) | |
| 5 | g.37815754C>T | CA359613879 | GDNF | c.533G>A (p.Cys178Tyr) c.455G>A (p.Cys152Tyr) c.506G>A (p.Cys169Tyr) c.584G>A (p.Cys195Tyr) c.377G>A (p.Cys126Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815755A>C | CA359613880 | GDNF | c.532T>G (p.Cys178Gly) c.454T>G (p.Cys152Gly) c.505T>G (p.Cys169Gly) c.583T>G (p.Cys195Gly) c.376T>G (p.Cys126Gly) | |
| 5 | g.37815755A>G | CA359613882 | GDNF | c.532T>C (p.Cys178Arg) c.454T>C (p.Cys152Arg) c.505T>C (p.Cys169Arg) c.583T>C (p.Cys195Arg) c.376T>C (p.Cys126Arg) | |
| 5 | g.37815755A>T | CA359613881 | GDNF | c.532T>A (p.Cys178Ser) c.454T>A (p.Cys152Ser) c.505T>A (p.Cys169Ser) c.583T>A (p.Cys195Ser) c.376T>A (p.Cys126Ser) | |
| 5 | g.37815756T>A | CA444103492 | GDNF | c.531A>T (p.Ala177=) c.453A>T (p.Ala151=) c.504A>T (p.Ala168=) c.582A>T (p.Ala194=) c.375A>T (p.Ala125=) | |
| 5 | g.37815756T>C | CA444103494 | GDNF | c.531A>G (p.Ala177=) c.453A>G (p.Ala151=) c.504A>G (p.Ala168=) c.582A>G (p.Ala194=) c.375A>G (p.Ala125=) | gnomAD v4 |
| 5 | g.37815756T>G | CA444103496 | GDNF | c.531A>C (p.Ala177=) c.453A>C (p.Ala151=) c.504A>C (p.Ala168=) c.582A>C (p.Ala194=) c.375A>C (p.Ala125=) | |
| 5 | g.37815757G>A | CA359613883 | GDNF | c.530C>T (p.Ala177Val) c.452C>T (p.Ala151Val) c.503C>T (p.Ala168Val) c.581C>T (p.Ala194Val) c.374C>T (p.Ala125Val) | |
| 5 | g.37815757G>C | CA359613885 | GDNF | c.530C>G (p.Ala177Gly) c.452C>G (p.Ala151Gly) c.503C>G (p.Ala168Gly) c.581C>G (p.Ala194Gly) c.374C>G (p.Ala125Gly) | |
| 5 | g.37815757G>T | CA359613884 | GDNF | c.530C>A (p.Ala177Glu) c.452C>A (p.Ala151Glu) c.503C>A (p.Ala168Glu) c.581C>A (p.Ala194Glu) c.374C>A (p.Ala125Glu) | |
| 5 | g.37815758C>A | CA359613886 | GDNF | c.529G>T (p.Ala177Ser) c.451G>T (p.Ala151Ser) c.502G>T (p.Ala168Ser) c.580G>T (p.Ala194Ser) c.373G>T (p.Ala125Ser) | |
| 5 | g.37815758C>G | CA359613888 | GDNF | c.529G>C (p.Ala177Pro) c.451G>C (p.Ala151Pro) c.502G>C (p.Ala168Pro) c.580G>C (p.Ala194Pro) c.373G>C (p.Ala125Pro) | |
| 5 | g.37815758C>T | CA359613887 | GDNF | c.529G>A (p.Ala177Thr) c.451G>A (p.Ala151Thr) c.502G>A (p.Ala168Thr) c.580G>A (p.Ala194Thr) c.373G>A (p.Ala125Thr) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37815759C>A | CA359613889 | GDNF | c.528G>T (p.Gln176His) c.450G>T (p.Gln150His) c.501G>T (p.Gln167His) c.579G>T (p.Gln193His) c.372G>T (p.Gln124His) | |
| 5 | g.37815759C= | CA1539963038 | GDNF | c.528G= (p.Gln176=) c.450G= (p.Gln150=) c.501G= (p.Gln167=) c.579G= (p.Gln193=) c.372G= (p.Gln124=) | |
| 5 | g.37815759C>G | CA359613890 | GDNF | c.528G>C (p.Gln176His) c.450G>C (p.Gln150His) c.501G>C (p.Gln167His) c.579G>C (p.Gln193His) c.372G>C (p.Gln124His) | |
| 5 | g.37815759C>T | CA444103500 | GDNF | c.528G>A (p.Gln176=) c.450G>A (p.Gln150=) c.501G>A (p.Gln167=) c.579G>A (p.Gln193=) c.372G>A (p.Gln124=) | dbSNP |
| 5 | g.37815760T>A | CA359613891 | GDNF | c.527A>T (p.Gln176Leu) c.449A>T (p.Gln150Leu) c.500A>T (p.Gln167Leu) c.578A>T (p.Gln193Leu) c.371A>T (p.Gln124Leu) | |
| 5 | g.37815760T>C | CA359613892 | GDNF | c.527A>G (p.Gln176Arg) c.449A>G (p.Gln150Arg) c.500A>G (p.Gln167Arg) c.578A>G (p.Gln193Arg) c.371A>G (p.Gln124Arg) | gnomAD v4 |
| 5 | g.37815760T>G | CA359613893 | GDNF | c.527A>C (p.Gln176Pro) c.449A>C (p.Gln150Pro) c.500A>C (p.Gln167Pro) c.578A>C (p.Gln193Pro) c.371A>C (p.Gln124Pro) | |
| 5 | g.37815761G>A | CA359613896 | GDNF | c.526C>T (p.Gln176Ter) c.448C>T (p.Gln150Ter) c.499C>T (p.Gln167Ter) c.577C>T (p.Gln193Ter) c.370C>T (p.Gln124Ter) | |
| 5 | g.37815761G>C | CA359613895 | GDNF | c.526C>G (p.Gln176Glu) c.448C>G (p.Gln150Glu) c.499C>G (p.Gln167Glu) c.577C>G (p.Gln193Glu) c.370C>G (p.Gln124Glu) | |
| 5 | g.37815761G>T | CA359613894 | GDNF | c.526C>A (p.Gln176Lys) c.448C>A (p.Gln150Lys) c.499C>A (p.Gln167Lys) c.577C>A (p.Gln193Lys) c.370C>A (p.Gln124Lys) | |
| 5 | g.37815762C>A | CA444103503 | GDNF | c.525G>T (p.Gly175=) c.447G>T (p.Gly149=) c.498G>T (p.Gly166=) c.576G>T (p.Gly192=) c.369G>T (p.Gly123=) | gnomAD v4 |
| 5 | g.37815762C>G | CA444103505 | GDNF | c.525G>C (p.Gly175=) c.447G>C (p.Gly149=) c.498G>C (p.Gly166=) c.576G>C (p.Gly192=) c.369G>C (p.Gly123=) | |
| 5 | g.37815762C>T | CA444103508 | GDNF | c.525G>A (p.Gly175=) c.447G>A (p.Gly149=) c.498G>A (p.Gly166=) c.576G>A (p.Gly192=) c.369G>A (p.Gly123=) | gnomAD v4 |
| 5 | g.37815763C>A | CA359613897 | GDNF | c.524G>T (p.Gly175Val) c.446G>T (p.Gly149Val) c.497G>T (p.Gly166Val) c.575G>T (p.Gly192Val) c.368G>T (p.Gly123Val) | |
| 5 | g.37815763C= | CA1539963049 | GDNF | c.524G= (p.Gly175=) c.446G= (p.Gly149=) c.497G= (p.Gly166=) c.575G= (p.Gly192=) c.368G= (p.Gly123=) | |
| 5 | g.37815763C>G | CA3241174 | GDNF | c.524G>C (p.Gly175Ala) c.446G>C (p.Gly149Ala) c.497G>C (p.Gly166Ala) c.575G>C (p.Gly192Ala) c.368G>C (p.Gly123Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815763C>T | CA117493066 | GDNF | c.524G>A (p.Gly175Glu) c.446G>A (p.Gly149Glu) c.497G>A (p.Gly166Glu) c.575G>A (p.Gly192Glu) c.368G>A (p.Gly123Glu) | dbSNP |
| 5 | g.37815764C>A | CA359613898 | GDNF | c.523G>T (p.Gly175Trp) c.445G>T (p.Gly149Trp) c.496G>T (p.Gly166Trp) c.574G>T (p.Gly192Trp) c.367G>T (p.Gly123Trp) | |
| 5 | g.37815764C= | CA1539963055 | GDNF | c.523G= (p.Gly175=) c.445G= (p.Gly149=) c.496G= (p.Gly166=) c.574G= (p.Gly192=) c.367G= (p.Gly123=) | |
| 5 | g.37815764C>G | CA359613899 | GDNF | c.523G>C (p.Gly175Arg) c.445G>C (p.Gly149Arg) c.496G>C (p.Gly166Arg) c.574G>C (p.Gly192Arg) c.367G>C (p.Gly123Arg) | |
| 5 | g.37815764C>T | CA359613900 | GDNF | c.523G>A (p.Gly175Arg) c.445G>A (p.Gly149Arg) c.496G>A (p.Gly166Arg) c.574G>A (p.Gly192Arg) c.367G>A (p.Gly123Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37815765T>A | CA444103512 | GDNF | c.522A>T (p.Val174=) c.444A>T (p.Val148=) c.495A>T (p.Val165=) c.573A>T (p.Val191=) c.366A>T (p.Val122=) | |
| 5 | g.37815765T>C | CA444103513 | GDNF | c.522A>G (p.Val174=) c.444A>G (p.Val148=) c.495A>G (p.Val165=) c.573A>G (p.Val191=) c.366A>G (p.Val122=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37815765T>G | CA444103515 | GDNF | c.522A>C (p.Val174=) c.444A>C (p.Val148=) c.495A>C (p.Val165=) c.573A>C (p.Val191=) c.366A>C (p.Val122=) | |
| 5 | g.37815766A>C | CA359613903 | GDNF | c.521T>G (p.Val174Gly) c.443T>G (p.Val148Gly) c.494T>G (p.Val165Gly) c.572T>G (p.Val191Gly) c.365T>G (p.Val122Gly) | |
| 5 | g.37815766A>G | CA359613901 | GDNF | c.521T>C (p.Val174Ala) c.443T>C (p.Val148Ala) c.494T>C (p.Val165Ala) c.572T>C (p.Val191Ala) c.365T>C (p.Val122Ala) | gnomAD v4 |
| 5 | g.37815766A>T | CA359613902 | GDNF | c.521T>A (p.Val174Glu) c.443T>A (p.Val148Glu) c.494T>A (p.Val165Glu) c.572T>A (p.Val191Glu) c.365T>A (p.Val122Glu) |