Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37815578T>C | CA559181069 | GDNF | c.*73A>G (n.*73A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815578T= | CA1539962589 | GDNF | c.*73A= (n.*73A=) | |
5 | g.37815579T>C | CA2673608512 | GDNF | c.*72A>G (n.*72A>G) | gnomAD v4 |
5 | g.37815581C>T | CA2578293242 | GDNF | c.*70G>A (n.*70G>A) | |
5 | g.37815582C= | CA1539962595 | GDNF | c.*69G= (n.*69G=) | |
5 | g.37815582C>T | CA117493054 | GDNF | c.*69G>A (n.*69G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815583del | CA2765933263 | GDNF | c.*68del (n.*68del) | |
5 | g.37815583T>C | CA2673608514 | GDNF | c.*68A>G (n.*68A>G) | gnomAD v4 |
5 | g.37815583T>G | CA2673608513 | GDNF | c.*68A>C (n.*68A>C) | gnomAD v4 |
5 | g.37815584G>T | CA2673608515 | GDNF | c.*67C>A (n.*67C>A) | gnomAD v4 |
5 | g.37815586del | CA2578293243 | GDNF | c.*67del (n.*67del) | |
5 | g.37815586G>T | CA2673608516 | GDNF | c.*65C>A (n.*65C>A) | gnomAD v4 |
5 | g.37815588A= | CA1539962598 | GDNF | c.*63T= (n.*63T=) | |
5 | g.37815588A>C | CA117493055 | GDNF | c.*63T>G (n.*63T>G) | dbSNP |
5 | g.37815588A>G | CA2673608517 | GDNF | c.*63T>C (n.*63T>C) | gnomAD v4 |
5 | g.37815588A>T | CA1075177777 | GDNF | c.*63T>A (n.*63T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815589C>A | CA117493056 | GDNF | c.*62G>T (n.*62G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815589C= | CA1539962602 | GDNF | c.*62G= (n.*62G=) | |
5 | g.37815589C>G | CA117493057 | GDNF | c.*62G>C (n.*62G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815589C>T | CA2595599366 | GDNF | c.*62G>A (n.*62G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815590C>T | CA2765933264 | GDNF | c.*61G>A (n.*61G>A) | |
5 | g.37815591T>C | CA1539962614 | GDNF | c.*60A>G (n.*60A>G) | dbSNP gnomAD v4 |
5 | g.37815591T= | CA1539962610 | GDNF | c.*60A= (n.*60A=) | |
5 | g.37815592T>C | CA117493058 | GDNF | c.*59A>G (n.*59A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815592T>G | CA1539962620 | GDNF | c.*59A>C (n.*59A>C) | dbSNP |
5 | g.37815592T= | CA1539962617 | GDNF | c.*59A= (n.*59A=) | |
5 | g.37815593G>T | CA2673608518 | GDNF | c.*58C>A (n.*58C>A) | dbSNP gnomAD v4 |
5 | g.37815594G= | CA1539962621 | GDNF | c.*57C= (n.*57C=) | |
5 | g.37815594G>T | CA559181079 | GDNF | c.*57C>A (n.*57C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815596C>A | CA2673608519 | GDNF | c.*55G>T (n.*55G>T) | gnomAD v4 |
5 | g.37815597C= | CA1539962625 | GDNF | c.*54G= (n.*54G=) | |
5 | g.37815597C>T | CA1539962626 | GDNF | c.*54G>A (n.*54G>A) | dbSNP gnomAD v4 |
5 | g.37815598C>A | CA2673608520 | GDNF | c.*53G>T (n.*53G>T) | gnomAD v4 |
5 | g.37815599T>C | CA2673608521 | GDNF | c.*52A>G (n.*52A>G) | gnomAD v4 |
5 | g.37815601T>C | CA2673608522 | GDNF | c.*50A>G (n.*50A>G) | gnomAD v4 |
5 | g.37815602C= | CA1539962647 | GDNF | c.*49G= (n.*49G=) | |
5 | g.37815602C>G | CA2673608523 | GDNF | c.*49G>C (n.*49G>C) | gnomAD v4 |
5 | g.37815602C>T | CA559181082 | GDNF | c.*49G>A (n.*49G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37815605T>C | CA559181086 | GDNF | c.*46A>G (n.*46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815605T= | CA1539962650 | GDNF | c.*46A= (n.*46A=) | |
5 | g.37815606G>T | CA2673608524 | GDNF | c.*45C>A (n.*45C>A) | gnomAD v4 |
5 | g.37815608A>G | CA2673608525 | GDNF | c.*43T>C (n.*43T>C) | gnomAD v4 |
5 | g.37815608A>T | CA2673608526 | GDNF | c.*43T>A (n.*43T>A) | gnomAD v4 |
5 | g.37815609C= | CA1539962656 | GDNF | c.*42G= (n.*42G=) | |
5 | g.37815609C>T | CA117493059 | GDNF | c.*42G>A (n.*42G>A) | dbSNP gnomAD v4 |
5 | g.37815610T>C | CA810391297 | GDNF | c.*41A>G (n.*41A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815610T= | CA1539962660 | GDNF | c.*41A= (n.*41A=) | |
5 | g.37815611G>A | CA2673608527 | GDNF | c.*40C>T (n.*40C>T) | gnomAD v4 |
5 | g.37815611G>T | CA2673608528 | GDNF | c.*40C>A (n.*40C>A) | gnomAD v4 |
5 | g.37815612T>C | CA3241154 | GDNF | c.*39A>G (n.*39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37815612T= | CA1539962662 | GDNF | c.*39A= (n.*39A=) | |
5 | g.37815614G>T | CA2673608529 | GDNF | c.*37C>A (n.*37C>A) | gnomAD v4 |
5 | g.37815615C>A | CA2765933265 | GDNF | c.*36G>T (n.*36G>T) | |
5 | g.37815615C= | CA1539962668 | GDNF | c.*36G= (n.*36G=) | |
5 | g.37815615C>T | CA3241155 | GDNF | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37815617G>T | CA2673608530 | GDNF | c.*34C>A (n.*34C>A) | gnomAD v4 |
5 | g.37815618G>T | CA2673608531 | GDNF | c.*33C>A (n.*33C>A) | gnomAD v4 |
5 | g.37815621T>A | CA2673608532 | GDNF | c.*30A>T (n.*30A>T) | gnomAD v4 |
5 | g.37815621T>C | CA1539962680 | GDNF | c.*30A>G (n.*30A>G) | dbSNP |
5 | g.37815621T>G | CA2673608533 | GDNF | c.*30A>C (n.*30A>C) | gnomAD v4 |
5 | g.37815621T= | CA1539962678 | GDNF | c.*30A= (n.*30A=) | |
5 | g.37815622G>A | CA3241156 | GDNF | c.*29C>T (n.*29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37815622G= | CA1539962686 | GDNF | c.*29C= (n.*29C=) | |
5 | g.37815622G>T | CA2673608534 | GDNF | c.*29C>A (n.*29C>A) | gnomAD v4 |
5 | g.37815623C>T | CA2673608535 | GDNF | c.*28G>A (n.*28G>A) | gnomAD v4 |
5 | g.37815624A>G | CA2673608536 | GDNF | c.*27T>C (n.*27T>C) | gnomAD v4 |
5 | g.37815624A>T | CA2673608537 | GDNF | c.*27T>A (n.*27T>A) | gnomAD v4 |
5 | g.37815625A>C | CA2740631441 | GDNF | c.*26T>G (n.*26T>G) | |
5 | g.37815625A>G | CA2673608538 | GDNF | c.*26T>C (n.*26T>C) | gnomAD v4 |
5 | g.37815626T>C | CA3241157 | GDNF | c.*25A>G (n.*25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815626T= | CA1539962688 | GDNF | c.*25A= (n.*25A=) | |
5 | g.37815629A= | CA1539962693 | GDNF | c.*22T= (n.*22T=) | |
5 | g.37815629A>C | CA2765933266 | GDNF | c.*22T>G (n.*22T>G) | |
5 | g.37815629A>G | CA1539962702 | GDNF | c.*22T>C (n.*22T>C) | dbSNP gnomAD v4 |
5 | g.37815629A>T | CA1539962700 | GDNF | c.*22T>A (n.*22T>A) | dbSNP |
5 | g.37815632G>C | CA2673608539 | GDNF | c.*19C>G (n.*19C>G) | gnomAD v4 |
5 | g.37815632G>T | CA2673608540 | GDNF | c.*19C>A (n.*19C>A) | gnomAD v4 |
5 | g.37815633C>A | CA559181097 | GDNF | c.*18G>T (n.*18G>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37815633C= | CA1539962703 | GDNF | c.*18G= (n.*18G=) | |
5 | g.37815633C>T | CA3241158 | GDNF | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37815634A= | CA1539962704 | GDNF | c.*17T= (n.*17T=) | |
5 | g.37815634A>C | CA810391304 | GDNF | c.*17T>G (n.*17T>G) | dbSNP gnomAD v4 |
5 | g.37815634A>G | CA2578293244 | GDNF | c.*17T>C (n.*17T>C) | gnomAD v4 |
5 | g.37815634_37815637delinsAGTC | CA1539962705 | GDNF | c.*14_*17delinsGACT (n.*14_*17delinsGACT) | |
5 | g.37815635_37815637del | CA1075177783 | GDNF | c.*14_*16del (n.*14_*16del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815636T>A | CA2673608541 | GDNF | c.*15A>T (n.*15A>T) | gnomAD v4 |
5 | g.37815636T>C | CA559181108 | GDNF | c.*15A>G (n.*15A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37815636T= | CA1539962707 | GDNF | c.*15A= (n.*15A=) | |
5 | g.37815638T>C | CA559181109 | GDNF | c.*13A>G (n.*13A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37815638T= | CA1539962708 | GDNF | c.*13A= (n.*13A=) | |
5 | g.37815639C>G | CA2708358901 | GDNF | c.*12G>C (n.*12G>C) | dbSNP |
5 | g.37815640T>C | CA2673608542 | GDNF | c.*11A>G (n.*11A>G) | gnomAD v4 |
5 | g.37815642G>C | CA1075177785 | GDNF | c.*9C>G (n.*9C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815642G= | CA1539962710 | GDNF | c.*9C= (n.*9C=) | |
5 | g.37815644_37815645delinsGC | CA1539962712 | GDNF | c.*6_*7delinsGC (n.*6_*7delinsGC) | |
5 | g.37815646del | CA810391310 | GDNF | c.*6del (n.*6del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37815646C= | CA1539962717 | GDNF | c.*5G= (n.*5G=) | |
5 | g.37815646C>G | CA117493060 | GDNF | c.*5G>C (n.*5G>C) | dbSNP |
5 | g.37815646C>T | CA3241159 | GDNF | c.*5G>A (n.*5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815647G>A | CA3241160 | GDNF | c.*4C>T (n.*4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.37815647G= | CA1539962724 | GDNF | c.*4C= (n.*4C=) | |
5 | g.37815647G>T | CA2673608543 | GDNF | c.*4C>A (n.*4C>A) | gnomAD v4 |
5 | g.37815649A= | CA1539962726 | GDNF | c.*2T= (n.*2T=) | |
5 | g.37815649A>T | CA3241161 | GDNF | c.*2T>A (n.*2T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37815650G>T | CA2673608544 | GDNF | c.*1C>A (n.*1C>A) | gnomAD v4 |
5 | g.37815651T>A | CA359613644 | GDNF | c.636A>T (p.Ter212Cys) c.558A>T (p.Ter186Cys) c.609A>T (p.Ter203Cys) c.687A>T (p.Ter229Cys) c.480A>T (p.Ter160Cys) | |
5 | g.37815651T>C | CA359613646 | GDNF | c.636A>G (p.Ter212Trp) c.558A>G (p.Ter186Trp) c.609A>G (p.Ter203Trp) c.687A>G (p.Ter229Trp) c.480A>G (p.Ter160Trp) | |
5 | g.37815651T>G | CA359613645 | GDNF | c.636A>C (p.Ter212Cys) c.558A>C (p.Ter186Cys) c.609A>C (p.Ter203Cys) c.687A>C (p.Ter229Cys) c.480A>C (p.Ter160Cys) | |
5 | g.37815652C>A | CA359613647 | GDNF | c.635G>T (p.Ter212Leu) c.557G>T (p.Ter186Leu) c.608G>T (p.Ter203Leu) c.686G>T (p.Ter229Leu) c.479G>T (p.Ter160Leu) | |
5 | g.37815652C>G | CA359613648 | GDNF | c.635G>C (p.Ter212Ser) c.557G>C (p.Ter186Ser) c.608G>C (p.Ter203Ser) c.686G>C (p.Ter229Ser) c.479G>C (p.Ter160Ser) | |
5 | g.37815652C>T | CA444019335 | GDNF | c.635G>A (p.Ter212=) c.557G>A (p.Ter186=) c.608G>A (p.Ter203=) c.686G>A (p.Ter229=) c.479G>A (p.Ter160=) | |
5 | g.37815653A>C | CA359613649 | GDNF | c.634T>G (p.Ter212Gly) c.556T>G (p.Ter186Gly) c.607T>G (p.Ter203Gly) c.685T>G (p.Ter229Gly) c.478T>G (p.Ter160Gly) | |
5 | g.37815653A>G | CA359613651 | GDNF | c.634T>C (p.Ter212Arg) c.556T>C (p.Ter186Arg) c.607T>C (p.Ter203Arg) c.685T>C (p.Ter229Arg) c.478T>C (p.Ter160Arg) | |
5 | g.37815653A>T | CA359613650 | GDNF | c.634T>A (p.Ter212Arg) c.556T>A (p.Ter186Arg) c.607T>A (p.Ter203Arg) c.685T>A (p.Ter229Arg) c.478T>A (p.Ter160Arg) | |
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) | |
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) |