Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.63629485A>C | CA340645748 | PGM1 | c.307A>C (p.Ile103Leu) c.361A>C (p.Ile121Leu) c.-285A>C (n.-285A>C) | |
1 | g.63629485A>G | CA340645745 | PGM1 | c.307A>G (p.Ile103Val) c.361A>G (p.Ile121Val) c.-285A>G (n.-285A>G) | gnomAD v4 |
1 | g.63629485A>T | CA340645740 | PGM1 | c.307A>T (p.Ile103Phe) c.361A>T (p.Ile121Phe) c.-285A>T (n.-285A>T) | |
1 | g.63629486T>A | CA340645750 | PGM1 | c.308T>A (p.Ile103Asn) c.362T>A (p.Ile121Asn) c.-284T>A (n.-284T>A) | |
1 | g.63629486T>C | CA340645753 | PGM1 | c.308T>C (p.Ile103Thr) c.362T>C (p.Ile121Thr) c.-284T>C (n.-284T>C) | |
1 | g.63629486T>G | CA340645756 | PGM1 | c.308T>G (p.Ile103Ser) c.362T>G (p.Ile121Ser) c.-284T>G (n.-284T>G) | |
1 | g.63629487T>A | CA418207773 | PGM1 | c.309T>A (p.Ile103=) c.363T>A (p.Ile121=) c.-283T>A (n.-283T>A) | |
1 | g.63629487T>C | CA418207770 | PGM1 | c.309T>C (p.Ile103=) c.363T>C (p.Ile121=) c.-283T>C (n.-283T>C) | gnomAD v4 |
1 | g.63629487T>G | CA340645758 | PGM1 | c.309T>G (p.Ile103Met) c.363T>G (p.Ile121Met) c.-283T>G (n.-283T>G) | gnomAD v4 |
1 | g.63629488A>C | CA418207776 | PGM1 | c.310A>C (p.Arg104=) c.364A>C (p.Arg122=) c.-282A>C (n.-282A>C) | |
1 | g.63629488A>G | CA340645761 | PGM1 | c.310A>G (p.Arg104Gly) c.364A>G (p.Arg122Gly) c.-282A>G (n.-282A>G) | |
1 | g.63629488A>T | CA340645767 | PGM1 | c.310A>T (p.Arg104Ter) c.364A>T (p.Arg122Ter) c.-282A>T (n.-282A>T) | |
1 | g.63629489G>A | CA340645774 | PGM1 | c.311G>A (p.Arg104Lys) c.365G>A (p.Arg122Lys) c.-281G>A (n.-281G>A) | |
1 | g.63629489G>C | CA340645777 | PGM1 | c.311G>C (p.Arg104Thr) c.365G>C (p.Arg122Thr) c.-281G>C (n.-281G>C) | |
1 | g.63629489G= | CA1171571098 | PGM1 | c.311G= (p.Arg104=) c.365G= (p.Arg122=) c.-281G= (n.-281G=) | |
1 | g.63629489G>T | CA340645780 | PGM1 | c.311G>T (p.Arg104Ile) c.365G>T (p.Arg122Ile) c.-281G>T (n.-281G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629490A= | CA1171571099 | PGM1 | c.312A= (p.Arg104=) c.366A= (p.Arg122=) c.-280A= (n.-280A=) | |
1 | g.63629490A>C | CA340645783 | PGM1 | c.312A>C (p.Arg104Ser) c.366A>C (p.Arg122Ser) c.-280A>C (n.-280A>C) | |
1 | g.63629490A>G | CA418207785 | PGM1 | c.312A>G (p.Arg104=) c.366A>G (p.Arg122=) c.-280A>G (n.-280A>G) | |
1 | g.63629490A>T | CA889507 | PGM1 | c.312A>T (p.Arg104Ser) c.366A>T (p.Arg122Ser) c.-280A>T (n.-280A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629494dup | CA523752297 | PGM1 | c.316dup (p.Ile106AsnfsTer30) c.370dup (p.Ile124AsnfsTer30) c.-276dup (n.-276dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629491A= | CA1171571100 | PGM1 | c.313A= (p.Lys105=) c.367A= (p.Lys123=) c.-279A= (n.-279A=) | |
1 | g.63629491A>C | CA340645790 | PGM1 | c.313A>C (p.Lys105Gln) c.367A>C (p.Lys123Gln) c.-279A>C (n.-279A>C) | |
1 | g.63629491A>G | CA340645793 | PGM1 | c.313A>G (p.Lys105Glu) c.367A>G (p.Lys123Glu) c.-279A>G (n.-279A>G) | COSMIC COSMIC |
1 | g.63629491A>T | CA23832110 | PGM1 | c.313A>T (p.Lys105Ter) c.367A>T (p.Lys123Ter) c.-279A>T (n.-279A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629492A>C | CA340645797 | PGM1 | c.314A>C (p.Lys105Thr) c.368A>C (p.Lys123Thr) c.-278A>C (n.-278A>C) | |
1 | g.63629492A>G | CA340645800 | PGM1 | c.314A>G (p.Lys105Arg) c.368A>G (p.Lys123Arg) c.-278A>G (n.-278A>G) | |
1 | g.63629492A>T | CA340645812 | PGM1 | c.314A>T (p.Lys105Ile) c.368A>T (p.Lys123Ile) c.-278A>T (n.-278A>T) | |
1 | g.63629493A>C | CA340645816 | PGM1 | c.315A>C (p.Lys105Asn) c.369A>C (p.Lys123Asn) c.-277A>C (n.-277A>C) | |
1 | g.63629493A>G | CA418207797 | PGM1 | c.315A>G (p.Lys105=) c.369A>G (p.Lys123=) c.-277A>G (n.-277A>G) | |
1 | g.63629493A>T | CA340645820 | PGM1 | c.315A>T (p.Lys105Asn) c.369A>T (p.Lys123Asn) c.-277A>T (n.-277A>T) | |
1 | g.63629494A>C | CA340645824 | PGM1 | c.316A>C (p.Ile106Leu) c.370A>C (p.Ile124Leu) c.-276A>C (n.-276A>C) | |
1 | g.63629494A>G | CA340645826 | PGM1 | c.316A>G (p.Ile106Val) c.370A>G (p.Ile124Val) c.-276A>G (n.-276A>G) | |
1 | g.63629494A>T | CA340645827 | PGM1 | c.316A>T (p.Ile106Phe) c.370A>T (p.Ile124Phe) c.-276A>T (n.-276A>T) | |
1 | g.63629495T>A | CA340645830 | PGM1 | c.317T>A (p.Ile106Asn) c.371T>A (p.Ile124Asn) c.-275T>A (n.-275T>A) | |
1 | g.63629495T>C | CA340645832 | PGM1 | c.317T>C (p.Ile106Thr) c.371T>C (p.Ile124Thr) c.-275T>C (n.-275T>C) | |
1 | g.63629495T>G | CA340645844 | PGM1 | c.317T>G (p.Ile106Ser) c.371T>G (p.Ile124Ser) c.-275T>G (n.-275T>G) | |
1 | g.63629496C>A | CA418207808 | PGM1 | c.318C>A (p.Ile106=) c.372C>A (p.Ile124=) c.-274C>A (n.-274C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629496C= | CA1171571101 | PGM1 | c.318C= (p.Ile106=) c.372C= (p.Ile124=) c.-274C= (n.-274C=) | |
1 | g.63629496C>G | CA889508 | PGM1 | c.318C>G (p.Ile106Met) c.372C>G (p.Ile124Met) c.-274C>G (n.-274C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629496C>T | CA418207811 | PGM1 | c.318C>T (p.Ile106=) c.372C>T (p.Ile124=) c.-274C>T (n.-274C>T) | |
1 | g.63629497A>C | CA340645846 | PGM1 | c.319A>C (p.Lys107Gln) c.373A>C (p.Lys125Gln) c.-273A>C (n.-273A>C) | |
1 | g.63629497A>G | CA340645848 | PGM1 | c.319A>G (p.Lys107Glu) c.373A>G (p.Lys125Glu) c.-273A>G (n.-273A>G) | gnomAD v4 |
1 | g.63629497A>T | CA340645845 | PGM1 | c.319A>T (p.Lys107Ter) c.373A>T (p.Lys125Ter) c.-273A>T (n.-273A>T) | |
1 | g.63629498A= | CA1171571102 | PGM1 | c.320A= (p.Lys107=) c.374A= (p.Lys125=) c.-272A= (n.-272A=) | |
1 | g.63629498A>C | CA23832131 | PGM1 | c.320A>C (p.Lys107Thr) c.374A>C (p.Lys125Thr) c.-272A>C (n.-272A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629498A>G | CA340645853 | PGM1 | c.320A>G (p.Lys107Arg) c.374A>G (p.Lys125Arg) c.-272A>G (n.-272A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629498A>T | CA340645855 | PGM1 | c.320A>T (p.Lys107Ile) c.374A>T (p.Lys125Ile) c.-272A>T (n.-272A>T) | |
1 | g.63629499A>C | CA340645858 | PGM1 | c.321A>C (p.Lys107Asn) c.375A>C (p.Lys125Asn) c.-271A>C (n.-271A>C) | |
1 | g.63629499A>G | CA418207822 | PGM1 | c.321A>G (p.Lys107=) c.375A>G (p.Lys125=) c.-271A>G (n.-271A>G) | |
1 | g.63629499A>T | CA340645861 | PGM1 | c.321A>T (p.Lys107Asn) c.375A>T (p.Lys125Asn) c.-271A>T (n.-271A>T) | |
1 | g.63629500G>A | CA340645870 | PGM1 | c.322G>A (p.Ala108Thr) c.376G>A (p.Ala126Thr) c.-270G>A (n.-270G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629500G>C | CA340645864 | PGM1 | c.322G>C (p.Ala108Pro) c.376G>C (p.Ala126Pro) c.-270G>C (n.-270G>C) | |
1 | g.63629500G= | CA1171571103 | PGM1 | c.322G= (p.Ala108=) c.376G= (p.Ala126=) c.-270G= (n.-270G=) | |
1 | g.63629500G>T | CA340645867 | PGM1 | c.322G>T (p.Ala108Ser) c.376G>T (p.Ala126Ser) c.-270G>T (n.-270G>T) | gnomAD v4 |
1 | g.63629501C>A | CA340645878 | PGM1 | c.323C>A (p.Ala108Asp) c.377C>A (p.Ala126Asp) c.-269C>A (n.-269C>A) | |
1 | g.63629501C>G | CA340645888 | PGM1 | c.323C>G (p.Ala108Gly) c.377C>G (p.Ala126Gly) c.-269C>G (n.-269C>G) | |
1 | g.63629501C>T | CA340645893 | PGM1 | c.323C>T (p.Ala108Val) c.377C>T (p.Ala126Val) c.-269C>T (n.-269C>T) | gnomAD v4 |
1 | g.63629502C>A | CA418207832 | PGM1 | c.324C>A (p.Ala108=) c.378C>A (p.Ala126=) c.-268C>A (n.-268C>A) | |
1 | g.63629502C= | CA1171571104 | PGM1 | c.324C= (p.Ala108=) c.378C= (p.Ala126=) c.-268C= (n.-268C=) | |
1 | g.63629502C>G | CA418207834 | PGM1 | c.324C>G (p.Ala108=) c.378C>G (p.Ala126=) c.-268C>G (n.-268C>G) | |
1 | g.63629502C>T | CA418207835 | PGM1 | c.324C>T (p.Ala108=) c.378C>T (p.Ala126=) c.-268C>T (n.-268C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629503A= | CA1148298893 | PGM1 | c.325A= (p.Ile109=) c.379A= (p.Ile127=) c.-267A= (n.-267A=) | |
1 | g.63629503A>C | CA340645897 | PGM1 | c.325A>C (p.Ile109Leu) c.379A>C (p.Ile127Leu) c.-267A>C (n.-267A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629503A>G | CA889509 | PGM1 | c.325A>G (p.Ile109Val) c.379A>G (p.Ile127Val) c.-267A>G (n.-267A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629503A>T | CA340645902 | PGM1 | c.325A>T (p.Ile109Phe) c.379A>T (p.Ile127Phe) c.-267A>T (n.-267A>T) | |
1 | g.63629504T>A | CA340645912 | PGM1 | c.326T>A (p.Ile109Asn) c.380T>A (p.Ile127Asn) c.-266T>A (n.-266T>A) | |
1 | g.63629504T>C | CA340645908 | PGM1 | c.326T>C (p.Ile109Thr) c.380T>C (p.Ile127Thr) c.-266T>C (n.-266T>C) | ClinVar gnomAD v4 |
1 | g.63629504T>G | CA340645906 | PGM1 | c.326T>G (p.Ile109Ser) c.380T>G (p.Ile127Ser) c.-266T>G (n.-266T>G) | |
1 | g.63629505T>A | CA418207847 | PGM1 | c.327T>A (p.Ile109=) c.381T>A (p.Ile127=) c.-265T>A (n.-265T>A) | |
1 | g.63629505T>C | CA889510 | PGM1 | c.327T>C (p.Ile109=) c.381T>C (p.Ile127=) c.-265T>C (n.-265T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629505T>G | CA340645915 | PGM1 | c.327T>G (p.Ile109Met) c.381T>G (p.Ile127Met) c.-265T>G (n.-265T>G) | |
1 | g.63629505T= | CA1171571105 | PGM1 | c.327T= (p.Ile109=) c.381T= (p.Ile127=) c.-265T= (n.-265T=) | |
1 | g.63629506G>A | CA340645917 | PGM1 | c.328G>A (p.Gly110Ser) c.382G>A (p.Gly128Ser) c.-264G>A (n.-264G>A) | |
1 | g.63629506G>C | CA340645918 | PGM1 | c.328G>C (p.Gly110Arg) c.382G>C (p.Gly128Arg) c.-264G>C (n.-264G>C) | gnomAD v4 |
1 | g.63629506G>T | CA340645919 | PGM1 | c.328G>T (p.Gly110Cys) c.382G>T (p.Gly128Cys) c.-264G>T (n.-264G>T) | |
1 | g.63629507G>A | CA340645921 | PGM1 | c.329G>A (p.Gly110Asp) c.383G>A (p.Gly128Asp) c.-263G>A (n.-263G>A) | |
1 | g.63629507G>C | CA340645924 | PGM1 | c.329G>C (p.Gly110Ala) c.383G>C (p.Gly128Ala) c.-263G>C (n.-263G>C) | |
1 | g.63629507G>T | CA340645935 | PGM1 | c.329G>T (p.Gly110Val) c.383G>T (p.Gly128Val) c.-263G>T (n.-263G>T) | |
1 | g.63629508T>A | CA418207859 | PGM1 | c.330T>A (p.Gly110=) c.384T>A (p.Gly128=) c.-262T>A (n.-262T>A) | |
1 | g.63629508T>C | CA418207861 | PGM1 | c.330T>C (p.Gly110=) c.384T>C (p.Gly128=) c.-262T>C (n.-262T>C) | |
1 | g.63629508T>G | CA418207863 | PGM1 | c.330T>G (p.Gly110=) c.384T>G (p.Gly128=) c.-262T>G (n.-262T>G) | |
1 | g.63629509G>A | CA340645938 | PGM1 | c.331G>A (p.Gly111Arg) c.385G>A (p.Gly129Arg) c.-261G>A (n.-261G>A) | |
1 | g.63629509G>C | CA340645940 | PGM1 | c.331G>C (p.Gly111Arg) c.385G>C (p.Gly129Arg) c.-261G>C (n.-261G>C) | |
1 | g.63629509G>T | CA340645945 | PGM1 | c.331G>T (p.Gly111Trp) c.385G>T (p.Gly129Trp) c.-261G>T (n.-261G>T) | |
1 | g.63629510G>A | CA340645947 | PGM1 | c.332G>A (p.Gly111Glu) c.386G>A (p.Gly129Glu) c.-260G>A (n.-260G>A) | gnomAD v4 |
1 | g.63629510G>C | CA340645949 | PGM1 | c.332G>C (p.Gly111Ala) c.386G>C (p.Gly129Ala) c.-260G>C (n.-260G>C) | |
1 | g.63629510G>T | CA340645957 | PGM1 | c.332G>T (p.Gly111Val) c.386G>T (p.Gly129Val) c.-260G>T (n.-260G>T) | |
1 | g.63629511G>A | CA418207871 | PGM1 | c.333G>A (p.Gly111=) c.387G>A (p.Gly129=) c.-259G>A (n.-259G>A) | |
1 | g.63629511G>C | CA418207872 | PGM1 | c.333G>C (p.Gly111=) c.387G>C (p.Gly129=) c.-259G>C (n.-259G>C) | |
1 | g.63629511G>T | CA418207874 | PGM1 | c.333G>T (p.Gly111=) c.387G>T (p.Gly129=) c.-259G>T (n.-259G>T) | |
1 | g.63629512A= | CA1171571106 | PGM1 | c.334A= (p.Ile112=) c.388A= (p.Ile130=) c.-258A= (n.-258A=) | |
1 | g.63629512A>C | CA340645968 | PGM1 | c.334A>C (p.Ile112Leu) c.388A>C (p.Ile130Leu) c.-258A>C (n.-258A>C) | |
1 | g.63629512A>G | CA23832142 | PGM1 | c.334A>G (p.Ile112Val) c.388A>G (p.Ile130Val) c.-258A>G (n.-258A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629512A>T | CA340645963 | PGM1 | c.334A>T (p.Ile112Phe) c.388A>T (p.Ile130Phe) c.-258A>T (n.-258A>T) | |
1 | g.63629513T>A | CA340645973 | PGM1 | c.335T>A (p.Ile112Asn) c.389T>A (p.Ile130Asn) c.-257T>A (n.-257T>A) | |
1 | g.63629513T>C | CA340645978 | PGM1 | c.335T>C (p.Ile112Thr) c.389T>C (p.Ile130Thr) c.-257T>C (n.-257T>C) | |
1 | g.63629513T>G | CA340645987 | PGM1 | c.335T>G (p.Ile112Ser) c.389T>G (p.Ile130Ser) c.-257T>G (n.-257T>G) | |
1 | g.63629514C>A | CA418207885 | PGM1 | c.336C>A (p.Ile112=) c.390C>A (p.Ile130=) c.-256C>A (n.-256C>A) | |
1 | g.63629514C= | CA1171571107 | PGM1 | c.336C= (p.Ile112=) c.390C= (p.Ile130=) c.-256C= (n.-256C=) | |
1 | g.63629514C>G | CA340645989 | PGM1 | c.336C>G (p.Ile112Met) c.390C>G (p.Ile130Met) c.-256C>G (n.-256C>G) | |
1 | g.63629514C>T | CA889511 | PGM1 | c.336C>T (p.Ile112=) c.390C>T (p.Ile130=) c.-256C>T (n.-256C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.63629515A>C | CA340645992 | PGM1 | c.337A>C (p.Ile113Leu) c.391A>C (p.Ile131Leu) c.-255A>C (n.-255A>C) | |
1 | g.63629515A>G | CA340645994 | PGM1 | c.337A>G (p.Ile113Val) c.391A>G (p.Ile131Val) c.-255A>G (n.-255A>G) | |
1 | g.63629515A>T | CA340645995 | PGM1 | c.337A>T (p.Ile113Phe) c.391A>T (p.Ile131Phe) c.-255A>T (n.-255A>T) | COSMIC COSMIC |
1 | g.63629515dup | CA2574393426 | PGM1 | c.337dup (p.Ile113AsnfsTer23) c.391dup (p.Ile131AsnfsTer23) c.-255dup (n.-255dup) | gnomAD v4 |
1 | g.63629516T>A | CA340645999 | PGM1 | c.338T>A (p.Ile113Asn) c.392T>A (p.Ile131Asn) c.-254T>A (n.-254T>A) | |
1 | g.63629516T>C | CA340646005 | PGM1 | c.338T>C (p.Ile113Thr) c.392T>C (p.Ile131Thr) c.-254T>C (n.-254T>C) | dbSNP |
1 | g.63629516T>G | CA340646008 | PGM1 | c.338T>G (p.Ile113Ser) c.392T>G (p.Ile131Ser) c.-254T>G (n.-254T>G) | |
1 | g.63629516T= | CA1171571108 | PGM1 | c.338T= (p.Ile113=) c.392T= (p.Ile131=) c.-254T= (n.-254T=) | |
1 | g.63629517T>A | CA418207896 | PGM1 | c.339T>A (p.Ile113=) c.393T>A (p.Ile131=) c.-253T>A (n.-253T>A) | |
1 | g.63629517T>C | CA418207898 | PGM1 | c.339T>C (p.Ile113=) c.393T>C (p.Ile131=) c.-253T>C (n.-253T>C) | dbSNP |
1 | g.63629517T>G | CA340646009 | PGM1 | c.339T>G (p.Ile113Met) c.393T>G (p.Ile131Met) c.-253T>G (n.-253T>G) | |
1 | g.63629517T= | CA1171571109 | PGM1 | c.339T= (p.Ile113=) c.393T= (p.Ile131=) c.-253T= (n.-253T=) | |
1 | g.63629518C>A | CA889512 | PGM1 | c.340C>A (p.Leu114Met) c.394C>A (p.Leu132Met) c.-252C>A (n.-252C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629518C= | CA1171571110 | PGM1 | c.340C= (p.Leu114=) c.394C= (p.Leu132=) c.-252C= (n.-252C=) | |
1 | g.63629518C>G | CA889513 | PGM1 | c.340C>G (p.Leu114Val) c.394C>G (p.Leu132Val) c.-252C>G (n.-252C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629518C>T | CA418207903 | PGM1 | c.340C>T (p.Leu114=) c.394C>T (p.Leu132=) c.-252C>T (n.-252C>T) | gnomAD v4 |
1 | g.63629519T>A | CA340646018 | PGM1 | c.341T>A (p.Leu114Gln) c.395T>A (p.Leu132Gln) c.-251T>A (n.-251T>A) | |
1 | g.63629519T>C | CA340646021 | PGM1 | c.341T>C (p.Leu114Pro) c.395T>C (p.Leu132Pro) c.-251T>C (n.-251T>C) | dbSNP gnomAD v4 |
1 | g.63629519T>G | CA340646015 | PGM1 | c.341T>G (p.Leu114Arg) c.395T>G (p.Leu132Arg) c.-251T>G (n.-251T>G) | |
1 | g.63629519T= | CA1171571111 | PGM1 | c.341T= (p.Leu114=) c.395T= (p.Leu132=) c.-251T= (n.-251T=) | |
1 | g.63629520G>A | CA418207910 | PGM1 | c.342G>A (p.Leu114=) c.396G>A (p.Leu132=) c.-250G>A (n.-250G>A) | |
1 | g.63629520G>C | CA418207914 | PGM1 | c.342G>C (p.Leu114=) c.396G>C (p.Leu132=) c.-250G>C (n.-250G>C) | |
1 | g.63629520G>T | CA418207915 | PGM1 | c.342G>T (p.Leu114=) c.396G>T (p.Leu132=) c.-250G>T (n.-250G>T) | |
1 | g.63629521A= | CA1141580822 | PGM1 | c.343A= (p.Thr115=) c.397A= (p.Thr133=) c.-249A= (n.-249A=) | |
1 | g.63629521A>C | CA340646025 | PGM1 | c.343A>C (p.Thr115Pro) c.397A>C (p.Thr133Pro) c.-249A>C (n.-249A>C) | dbSNP |
1 | g.63629521A>G | CA123324 | PGM1 | c.343A>G (p.Thr115Ala) c.397A>G (p.Thr133Ala) c.-249A>G (n.-249A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629521A>T | CA340646032 | PGM1 | c.343A>T (p.Thr115Ser) c.397A>T (p.Thr133Ser) c.-249A>T (n.-249A>T) | |
1 | g.63629522C>A | CA340646036 | PGM1 | c.344C>A (p.Thr115Lys) c.398C>A (p.Thr133Lys) c.-248C>A (n.-248C>A) | |
1 | g.63629522C>G | CA340646044 | PGM1 | c.344C>G (p.Thr115Arg) c.398C>G (p.Thr133Arg) c.-248C>G (n.-248C>G) | |
1 | g.63629522C>T | CA340646045 | PGM1 | c.344C>T (p.Thr115Ile) c.398C>T (p.Thr133Ile) c.-248C>T (n.-248C>T) | |
1 | g.63629523A= | CA1171571112 | PGM1 | c.345A= (p.Thr115=) c.399A= (p.Thr133=) c.-247A= (n.-247A=) | |
1 | g.63629523A>C | CA418207925 | PGM1 | c.345A>C (p.Thr115=) c.399A>C (p.Thr133=) c.-247A>C (n.-247A>C) | |
1 | g.63629523A>G | CA418207928 | PGM1 | c.345A>G (p.Thr115=) c.399A>G (p.Thr133=) c.-247A>G (n.-247A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629523A>T | CA418207930 | PGM1 | c.345A>T (p.Thr115=) c.399A>T (p.Thr133=) c.-247A>T (n.-247A>T) | |
1 | g.63629524G>A | CA340646048 | PGM1 | c.346G>A (p.Ala116Thr) c.400G>A (p.Ala134Thr) c.-246G>A (n.-246G>A) | COSMIC |
1 | g.63629524G>C | CA340646051 | PGM1 | c.346G>C (p.Ala116Pro) c.400G>C (p.Ala134Pro) c.-246G>C (n.-246G>C) | |
1 | g.63629524G>T | CA340646054 | PGM1 | c.346G>T (p.Ala116Ser) c.400G>T (p.Ala134Ser) c.-246G>T (n.-246G>T) | |
1 | g.63629525C>A | CA340646064 | PGM1 | c.347C>A (p.Ala116Asp) c.401C>A (p.Ala134Asp) c.-245C>A (n.-245C>A) | |
1 | g.63629525C= | CA1143972739 | PGM1 | c.347C= (p.Ala116=) c.401C= (p.Ala134=) c.-245C= (n.-245C=) | |
1 | g.63629525C>G | CA23832149 | PGM1 | c.347C>G (p.Ala116Gly) c.401C>G (p.Ala134Gly) c.-245C>G (n.-245C>G) | dbSNP gnomAD v4 |
1 | g.63629525C>T | CA340646067 | PGM1 | c.347C>T (p.Ala116Val) c.401C>T (p.Ala134Val) c.-245C>T (n.-245C>T) | gnomAD v4 |
1 | g.63629526C>A | CA418207938 | PGM1 | c.348C>A (p.Ala116=) c.402C>A (p.Ala134=) c.-244C>A (n.-244C>A) | |
1 | g.63629526C= | CA1171571113 | PGM1 | c.348C= (p.Ala116=) c.402C= (p.Ala134=) c.-244C= (n.-244C=) | |
1 | g.63629526C>G | CA418207942 | PGM1 | c.348C>G (p.Ala116=) c.402C>G (p.Ala134=) c.-244C>G (n.-244C>G) | |
1 | g.63629526C>T | CA418207940 | PGM1 | c.348C>T (p.Ala116=) c.402C>T (p.Ala134=) c.-244C>T (n.-244C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629527A= | CA1171571114 | PGM1 | c.349A= (p.Ser117=) c.403A= (p.Ser135=) c.-243A= (n.-243A=) | |
1 | g.63629527A>C | CA340646074 | PGM1 | c.349A>C (p.Ser117Arg) c.403A>C (p.Ser135Arg) c.-243A>C (n.-243A>C) | |
1 | g.63629527A>G | CA340646072 | PGM1 | c.349A>G (p.Ser117Gly) c.403A>G (p.Ser135Gly) c.-243A>G (n.-243A>G) | dbSNP |
1 | g.63629527A>T | CA340646069 | PGM1 | c.349A>T (p.Ser117Cys) c.403A>T (p.Ser135Cys) c.-243A>T (n.-243A>T) | |
1 | g.63629528G>A | CA340646077 | PGM1 | c.350G>A (p.Ser117Asn) c.404G>A (p.Ser135Asn) c.-242G>A (n.-242G>A) | gnomAD v4 |
1 | g.63629528G>C | CA340646083 | PGM1 | c.350G>C (p.Ser117Thr) c.404G>C (p.Ser135Thr) c.-242G>C (n.-242G>C) | gnomAD v4 |
1 | g.63629528G>T | CA340646086 | PGM1 | c.350G>T (p.Ser117Ile) c.404G>T (p.Ser135Ile) c.-242G>T (n.-242G>T) | |
1 | g.63629529T>A | CA340646087 | PGM1 | c.351T>A (p.Ser117Arg) c.405T>A (p.Ser135Arg) c.-241T>A (n.-241T>A) | |
1 | g.63629529T>C | CA418207949 | PGM1 | c.351T>C (p.Ser117=) c.405T>C (p.Ser135=) c.-241T>C (n.-241T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629529T>G | CA340646089 | PGM1 | c.351T>G (p.Ser117Arg) c.405T>G (p.Ser135Arg) c.-241T>G (n.-241T>G) | |
1 | g.63629529T= | CA1171571115 | PGM1 | c.351T= (p.Ser117=) c.405T= (p.Ser135=) c.-241T= (n.-241T=) | |
1 | g.63629530C>A | CA340646092 | PGM1 | c.352C>A (p.His118Asn) c.406C>A (p.His136Asn) c.-240C>A (n.-240C>A) | |
1 | g.63629530C>G | CA340646094 | PGM1 | c.352C>G (p.His118Asp) c.406C>G (p.His136Asp) c.-240C>G (n.-240C>G) | |
1 | g.63629530C>T | CA340646095 | PGM1 | c.352C>T (p.His118Tyr) c.406C>T (p.His136Tyr) c.-240C>T (n.-240C>T) | |
1 | g.63629532_63629533dup | CA2646028484 | PGM1 | c.354_355dup (p.Asn119ThrfsTer26) c.408_409dup (p.Asn137ThrfsTer26) c.-238_-237dup (n.-238_-237dup) | gnomAD v4 |
1 | g.63629532_63629533del | CA2574393427 | PGM1 | c.354_355del (p.His118GlnfsTer17) c.408_409del (p.His136GlnfsTer17) c.-238_-237del (n.-238_-237del) | |
1 | g.63629531A>C | CA340646098 | PGM1 | c.353A>C (p.His118Pro) c.407A>C (p.His136Pro) c.-239A>C (n.-239A>C) | |
1 | g.63629531A>G | CA340646099 | PGM1 | c.353A>G (p.His118Arg) c.407A>G (p.His136Arg) c.-239A>G (n.-239A>G) | |
1 | g.63629531A>T | CA340646100 | PGM1 | c.353A>T (p.His118Leu) c.407A>T (p.His136Leu) c.-239A>T (n.-239A>T) | |
1 | g.63629532C>A | CA340646101 | PGM1 | c.354C>A (p.His118Gln) c.408C>A (p.His136Gln) c.-238C>A (n.-238C>A) | |
1 | g.63629532C>G | CA340646102 | PGM1 | c.354C>G (p.His118Gln) c.408C>G (p.His136Gln) c.-238C>G (n.-238C>G) | |
1 | g.63629532C>T | CA418207965 | PGM1 | c.354C>T (p.His118=) c.408C>T (p.His136=) c.-238C>T (n.-238C>T) | gnomAD v4 |
1 | g.63629533A>C | CA340646107 | PGM1 | c.355A>C (p.Asn119His) c.409A>C (p.Asn137His) c.-237A>C (n.-237A>C) | |
1 | g.63629533A>G | CA340646105 | PGM1 | c.355A>G (p.Asn119Asp) c.409A>G (p.Asn137Asp) c.-237A>G (n.-237A>G) | |
1 | g.63629533A>T | CA340646103 | PGM1 | c.355A>T (p.Asn119Tyr) c.409A>T (p.Asn137Tyr) c.-237A>T (n.-237A>T) | |
1 | g.63629534A= | CA1171571116 | PGM1 | c.356A= (p.Asn119=) c.410A= (p.Asn137=) c.-236A= (n.-236A=) | |
1 | g.63629534A>C | CA340646109 | PGM1 | c.356A>C (p.Asn119Thr) c.410A>C (p.Asn137Thr) c.-236A>C (n.-236A>C) | |
1 | g.63629534A>G | CA340646115 | PGM1 | c.356A>G (p.Asn119Ser) c.410A>G (p.Asn137Ser) c.-236A>G (n.-236A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629534A>T | CA340646112 | PGM1 | c.356A>T (p.Asn119Ile) c.410A>T (p.Asn137Ile) c.-236A>T (n.-236A>T) | |
1 | g.63629535C>A | CA340646117 | PGM1 | c.357C>A (p.Asn119Lys) c.411C>A (p.Asn137Lys) c.-235C>A (n.-235C>A) | gnomAD v4 |
1 | g.63629535C= | CA1147981165 | PGM1 | c.357C= (p.Asn119=) c.411C= (p.Asn137=) c.-235C= (n.-235C=) | |
1 | g.63629535C>G | CA340646124 | PGM1 | c.357C>G (p.Asn119Lys) c.411C>G (p.Asn137Lys) c.-235C>G (n.-235C>G) | |
1 | g.63629535C>T | CA889514 | PGM1 | c.357C>T (p.Asn119=) c.411C>T (p.Asn137=) c.-235C>T (n.-235C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629536C>A | CA340646130 | PGM1 | c.358C>A (p.Pro120Thr) c.412C>A (p.Pro138Thr) c.-234C>A (n.-234C>A) | |
1 | g.63629536C= | CA1171571117 | PGM1 | c.358C= (p.Pro120=) c.412C= (p.Pro138=) c.-234C= (n.-234C=) | |
1 | g.63629536C>G | CA340646133 | PGM1 | c.358C>G (p.Pro120Ala) c.412C>G (p.Pro138Ala) c.-234C>G (n.-234C>G) | |
1 | g.63629536C>T | CA340646134 | PGM1 | c.358C>T (p.Pro120Ser) c.412C>T (p.Pro138Ser) c.-234C>T (n.-234C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629537C>A | CA340646135 | PGM1 | c.359C>A (p.Pro120Gln) c.413C>A (p.Pro138Gln) c.-233C>A (n.-233C>A) | |
1 | g.63629537C= | CA1171571118 | PGM1 | c.359C= (p.Pro120=) c.413C= (p.Pro138=) c.-233C= (n.-233C=) | |
1 | g.63629537C>G | CA340646139 | PGM1 | c.359C>G (p.Pro120Arg) c.413C>G (p.Pro138Arg) c.-233C>G (n.-233C>G) | |
1 | g.63629537C>T | CA340646142 | PGM1 | c.359C>T (p.Pro120Leu) c.413C>T (p.Pro138Leu) c.-233C>T (n.-233C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.63629538A= | CA1171571119 | PGM1 | c.360A= (p.Pro120=) c.414A= (p.Pro138=) c.-232A= (n.-232A=) | |
1 | g.63629538A>C | CA418207987 | PGM1 | c.360A>C (p.Pro120=) c.414A>C (p.Pro138=) c.-232A>C (n.-232A>C) | |
1 | g.63629538A>G | CA23832158 | PGM1 | c.360A>G (p.Pro120=) c.414A>G (p.Pro138=) c.-232A>G (n.-232A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629538A>T | CA418207992 | PGM1 | c.360A>T (p.Pro120=) c.414A>T (p.Pro138=) c.-232A>T (n.-232A>T) | |
1 | g.63629539G>A | CA340646148 | PGM1 | c.361G>A (p.Gly121Arg) c.415G>A (p.Gly139Arg) c.-231G>A (n.-231G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629539G>C | CA130545 | PGM1 | c.361G>C (p.Gly121Arg) c.415G>C (p.Gly139Arg) c.-231G>C (n.-231G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629539G= | CA1144232888 | PGM1 | c.361G= (p.Gly121=) c.415G= (p.Gly139=) c.-231G= (n.-231G=) | |
1 | g.63629539G>T | CA889515 | PGM1 | c.361G>T (p.Gly121Trp) c.415G>T (p.Gly139Trp) c.-231G>T (n.-231G>T) | dbSNP ExAC gnomAD v2 |
1 | g.63629543dup | CA2743892760 | PGM1 | c.365dup (p.Asn124GlnfsTer12) c.419dup (p.Asn142GlnfsTer12) c.-227dup (n.-227dup) | |
1 | g.63629542_63629543dup | CA2743892761 | PGM1 | c.364_365dup (p.Pro123AlafsTer22) c.418_419dup (p.Pro141AlafsTer22) c.-228_-227dup (n.-228_-227dup) | |
1 | g.63629543del | CA645523574 | PGM1 | c.365del (p.Gly122AlafsTer22) c.419del (p.Gly140AlafsTer22) c.-227del (n.-227del) | gnomAD v4 COSMIC COSMIC |
1 | g.63629540G>A | CA340646168 | PGM1 | c.362G>A (p.Gly121Glu) c.416G>A (p.Gly139Glu) c.-230G>A (n.-230G>A) | |
1 | g.63629540G>C | CA340646163 | PGM1 | c.362G>C (p.Gly121Ala) c.416G>C (p.Gly139Ala) c.-230G>C (n.-230G>C) | |
1 | g.63629540G>T | CA340646165 | PGM1 | c.362G>T (p.Gly121Val) c.416G>T (p.Gly139Val) c.-230G>T (n.-230G>T) | |
1 | g.63629541G>A | CA418208003 | PGM1 | c.363G>A (p.Gly121=) c.417G>A (p.Gly139=) c.-229G>A (n.-229G>A) | dbSNP |
1 | g.63629541G>C | CA418208006 | PGM1 | c.363G>C (p.Gly121=) c.417G>C (p.Gly139=) c.-229G>C (n.-229G>C) | |
1 | g.63629541G= | CA1171571120 | PGM1 | c.363G= (p.Gly121=) c.417G= (p.Gly139=) c.-229G= (n.-229G=) | |
1 | g.63629541G>T | CA418208007 | PGM1 | c.363G>T (p.Gly121=) c.417G>T (p.Gly139=) c.-229G>T (n.-229G>T) | gnomAD v4 |
1 | g.63629542G>A | CA340646183 | PGM1 | c.364G>A (p.Gly122Ser) c.418G>A (p.Gly140Ser) c.-228G>A (n.-228G>A) | |
1 | g.63629542G>C | CA340646184 | PGM1 | c.364G>C (p.Gly122Arg) c.418G>C (p.Gly140Arg) c.-228G>C (n.-228G>C) | |
1 | g.63629542G= | CA1171571121 | PGM1 | c.364G= (p.Gly122=) c.418G= (p.Gly140=) c.-228G= (n.-228G=) | |
1 | g.63629542G>T | CA340646186 | PGM1 | c.364G>T (p.Gly122Cys) c.418G>T (p.Gly140Cys) c.-228G>T (n.-228G>T) | dbSNP gnomAD v4 |
1 | g.63629543G>A | CA340646198 | PGM1 | c.365G>A (p.Gly122Asp) c.419G>A (p.Gly140Asp) c.-227G>A (n.-227G>A) | |
1 | g.63629543G>C | CA340646201 | PGM1 | c.365G>C (p.Gly122Ala) c.419G>C (p.Gly140Ala) c.-227G>C (n.-227G>C) | |
1 | g.63629543G= | CA1171571122 | PGM1 | c.365G= (p.Gly122=) c.419G= (p.Gly140=) c.-227G= (n.-227G=) | |
1 | g.63629543G>T | CA340646204 | PGM1 | c.365G>T (p.Gly122Val) c.419G>T (p.Gly140Val) c.-227G>T (n.-227G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629544C>A | CA418208017 | PGM1 | c.366C>A (p.Gly122=) c.420C>A (p.Gly140=) c.-226C>A (n.-226C>A) | |
1 | g.63629544C= | CA1171571123 | PGM1 | c.366C= (p.Gly122=) c.420C= (p.Gly140=) c.-226C= (n.-226C=) | |
1 | g.63629544C>G | CA418208018 | PGM1 | c.366C>G (p.Gly122=) c.420C>G (p.Gly140=) c.-226C>G (n.-226C>G) | |
1 | g.63629544C>T | CA418208020 | PGM1 | c.366C>T (p.Gly122=) c.420C>T (p.Gly140=) c.-226C>T (n.-226C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629545C>A | CA340646207 | PGM1 | c.367C>A (p.Pro123Thr) c.421C>A (p.Pro141Thr) c.-225C>A (n.-225C>A) | |
1 | g.63629545C= | CA1171571124 | PGM1 | c.367C= (p.Pro123=) c.421C= (p.Pro141=) c.-225C= (n.-225C=) | |
1 | g.63629545C>G | CA340646209 | PGM1 | c.367C>G (p.Pro123Ala) c.421C>G (p.Pro141Ala) c.-225C>G (n.-225C>G) | |
1 | g.63629545C>T | CA340646211 | PGM1 | c.367C>T (p.Pro123Ser) c.421C>T (p.Pro141Ser) c.-225C>T (n.-225C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629546C>A | CA340646212 | PGM1 | c.368C>A (p.Pro123His) c.422C>A (p.Pro141His) c.-224C>A (n.-224C>A) | |
1 | g.63629546C= | CA1171571125 | PGM1 | c.368C= (p.Pro123=) c.422C= (p.Pro141=) c.-224C= (n.-224C=) | |
1 | g.63629546C>G | CA340646218 | PGM1 | c.368C>G (p.Pro123Arg) c.422C>G (p.Pro141Arg) c.-224C>G (n.-224C>G) | |
1 | g.63629546C>T | CA889516 | PGM1 | c.368C>T (p.Pro123Leu) c.422C>T (p.Pro141Leu) c.-224C>T (n.-224C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629547C>A | CA418208031 | PGM1 | c.369C>A (p.Pro123=) c.423C>A (p.Pro141=) c.-223C>A (n.-223C>A) | |
1 | g.63629547C>G | CA418208033 | PGM1 | c.369C>G (p.Pro123=) c.423C>G (p.Pro141=) c.-223C>G (n.-223C>G) | |
1 | g.63629547C>T | CA418208035 | PGM1 | c.369C>T (p.Pro123=) c.423C>T (p.Pro141=) c.-223C>T (n.-223C>T) | gnomAD v4 |
1 | g.63629548A= | CA1171571126 | PGM1 | c.370A= (p.Asn124=) c.424A= (p.Asn142=) c.-222A= (n.-222A=) | |
1 | g.63629548A>C | CA340646221 | PGM1 | c.370A>C (p.Asn124His) c.424A>C (p.Asn142His) c.-222A>C (n.-222A>C) | |
1 | g.63629548A>G | CA340646220 | PGM1 | c.370A>G (p.Asn124Asp) c.424A>G (p.Asn142Asp) c.-222A>G (n.-222A>G) | dbSNP gnomAD v4 |
1 | g.63629548A>T | CA340646219 | PGM1 | c.370A>T (p.Asn124Tyr) c.424A>T (p.Asn142Tyr) c.-222A>T (n.-222A>T) | |
1 | g.63629549A= | CA1143547856 | PGM1 | c.371A= (p.Asn124=) c.425A= (p.Asn142=) c.-221A= (n.-221A=) | |
1 | g.63629549A>C | CA340646224 | PGM1 | c.371A>C (p.Asn124Thr) c.425A>C (p.Asn142Thr) c.-221A>C (n.-221A>C) | |
1 | g.63629549A>G | CA889517 | PGM1 | c.371A>G (p.Asn124Ser) c.425A>G (p.Asn142Ser) c.-221A>G (n.-221A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629549A>T | CA340646223 | PGM1 | c.371A>T (p.Asn124Ile) c.425A>T (p.Asn142Ile) c.-221A>T (n.-221A>T) | |
1 | g.63629550T>A | CA340646226 | PGM1 | c.372T>A (p.Asn124Lys) c.426T>A (p.Asn142Lys) c.-220T>A (n.-220T>A) | gnomAD v4 |
1 | g.63629550T>C | CA418208047 | PGM1 | c.372T>C (p.Asn124=) c.426T>C (p.Asn142=) c.-220T>C (n.-220T>C) | |
1 | g.63629550T>G | CA340646230 | PGM1 | c.372T>G (p.Asn124Lys) c.426T>G (p.Asn142Lys) c.-220T>G (n.-220T>G) | |
1 | g.63629551G>A | CA340646240 | PGM1 | c.373G>A (p.Gly125Arg) c.427G>A (p.Gly143Arg) c.-219G>A (n.-219G>A) | |
1 | g.63629551G>C | CA340646241 | PGM1 | c.373G>C (p.Gly125Arg) c.427G>C (p.Gly143Arg) c.-219G>C (n.-219G>C) | |
1 | g.63629551G>T | CA340646242 | PGM1 | c.373G>T (p.Gly125Ter) c.427G>T (p.Gly143Ter) c.-219G>T (n.-219G>T) | |
1 | g.63629552G>A | CA340646244 | PGM1 | c.374G>A (p.Gly125Glu) c.428G>A (p.Gly143Glu) c.-218G>A (n.-218G>A) | |
1 | g.63629552G>C | CA340646245 | PGM1 | c.374G>C (p.Gly125Ala) c.428G>C (p.Gly143Ala) c.-218G>C (n.-218G>C) | |
1 | g.63629552G>T | CA340646248 | PGM1 | c.374G>T (p.Gly125Val) c.428G>T (p.Gly143Val) c.-218G>T (n.-218G>T) | |
1 | g.63629553A= | CA1171571127 | PGM1 | c.375A= (p.Gly125=) c.429A= (p.Gly143=) c.-217A= (n.-217A=) | |
1 | g.63629553A>C | CA418208061 | PGM1 | c.375A>C (p.Gly125=) c.429A>C (p.Gly143=) c.-217A>C (n.-217A>C) | |
1 | g.63629553A>G | CA418208063 | PGM1 | c.375A>G (p.Gly125=) c.429A>G (p.Gly143=) c.-217A>G (n.-217A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629553A>T | CA418208065 | PGM1 | c.375A>T (p.Gly125=) c.429A>T (p.Gly143=) c.-217A>T (n.-217A>T) | |
1 | g.63629554G>A | CA340646251 | PGM1 | c.376G>A (p.Asp126Asn) c.430G>A (p.Asp144Asn) c.-216G>A (n.-216G>A) | |
1 | g.63629554G>C | CA340646255 | PGM1 | c.376G>C (p.Asp126His) c.430G>C (p.Asp144His) c.-216G>C (n.-216G>C) | gnomAD v4 |
1 | g.63629554G>T | CA340646256 | PGM1 | c.376G>T (p.Asp126Tyr) c.430G>T (p.Asp144Tyr) c.-216G>T (n.-216G>T) | |
1 | g.63629555A>C | CA340646264 | PGM1 | c.377A>C (p.Asp126Ala) c.431A>C (p.Asp144Ala) c.-215A>C (n.-215A>C) | |
1 | g.63629555A>G | CA340646257 | PGM1 | c.377A>G (p.Asp126Gly) c.431A>G (p.Asp144Gly) c.-215A>G (n.-215A>G) | |
1 | g.63629555A>T | CA340646260 | PGM1 | c.377A>T (p.Asp126Val) c.431A>T (p.Asp144Val) c.-215A>T (n.-215A>T) | |
1 | g.63629556T>A | CA340646266 | PGM1 | c.378T>A (p.Asp126Glu) c.432T>A (p.Asp144Glu) c.-214T>A (n.-214T>A) | |
1 | g.63629556T>C | CA418208078 | PGM1 | c.378T>C (p.Asp126=) c.432T>C (p.Asp144=) c.-214T>C (n.-214T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629556T>G | CA340646267 | PGM1 | c.378T>G (p.Asp126Glu) c.432T>G (p.Asp144Glu) c.-214T>G (n.-214T>G) | |
1 | g.63629556T= | CA1171571128 | PGM1 | c.378T= (p.Asp126=) c.432T= (p.Asp144=) c.-214T= (n.-214T=) | |
1 | g.63629557T>A | CA340646277 | PGM1 | c.379T>A (p.Phe127Ile) c.433T>A (p.Phe145Ile) c.-213T>A (n.-213T>A) | gnomAD v4 |
1 | g.63629557T>C | CA340646279 | PGM1 | c.379T>C (p.Phe127Leu) c.433T>C (p.Phe145Leu) c.-213T>C (n.-213T>C) | |
1 | g.63629557T>G | CA340646282 | PGM1 | c.379T>G (p.Phe127Val) c.433T>G (p.Phe145Val) c.-213T>G (n.-213T>G) | |
1 | g.63629558T>A | CA340646283 | PGM1 | c.380T>A (p.Phe127Tyr) c.434T>A (p.Phe145Tyr) c.-212T>A (n.-212T>A) | |
1 | g.63629558T>C | CA340646287 | PGM1 | c.380T>C (p.Phe127Ser) c.434T>C (p.Phe145Ser) c.-212T>C (n.-212T>C) | |
1 | g.63629558T>G | CA340646290 | PGM1 | c.380T>G (p.Phe127Cys) c.434T>G (p.Phe145Cys) c.-212T>G (n.-212T>G) | |
1 | g.63629559T>A | CA340646294 | PGM1 | c.381T>A (p.Phe127Leu) c.435T>A (p.Phe145Leu) c.-211T>A (n.-211T>A) | |
1 | g.63629559T>C | CA418208088 | PGM1 | c.381T>C (p.Phe127=) c.435T>C (p.Phe145=) c.-211T>C (n.-211T>C) | |
1 | g.63629559T>G | CA340646296 | PGM1 | c.381T>G (p.Phe127Leu) c.435T>G (p.Phe145Leu) c.-211T>G (n.-211T>G) | |
1 | g.63629560G>A | CA23832181 | PGM1 | c.382G>A (p.Gly128Arg) c.436G>A (p.Gly146Arg) c.-210G>A (n.-210G>A) | dbSNP gnomAD v4 |
1 | g.63629560G>C | CA340646299 | PGM1 | c.382G>C (p.Gly128Arg) c.436G>C (p.Gly146Arg) c.-210G>C (n.-210G>C) | |
1 | g.63629560G= | CA1171571129 | PGM1 | c.382G= (p.Gly128=) c.436G= (p.Gly146=) c.-210G= (n.-210G=) | |
1 | g.63629560G>T | CA340646300 | PGM1 | c.382G>T (p.Gly128Ter) c.436G>T (p.Gly146Ter) c.-210G>T (n.-210G>T) | dbSNP |
1 | g.63629561G>A | CA340646313 | PGM1 | c.383G>A (p.Gly128Glu) c.437G>A (p.Gly146Glu) c.-209G>A (n.-209G>A) | |
1 | g.63629561G>C | CA340646315 | PGM1 | c.383G>C (p.Gly128Ala) c.437G>C (p.Gly146Ala) c.-209G>C (n.-209G>C) | |
1 | g.63629561G>T | CA340646311 | PGM1 | c.383G>T (p.Gly128Val) c.437G>T (p.Gly146Val) c.-209G>T (n.-209G>T) | |
1 | g.63629562A>C | CA418208101 | PGM1 | c.384A>C (p.Gly128=) c.438A>C (p.Gly146=) c.-208A>C (n.-208A>C) | |
1 | g.63629562A>G | CA418208102 | PGM1 | c.384A>G (p.Gly128=) c.438A>G (p.Gly146=) c.-208A>G (n.-208A>G) | |
1 | g.63629562A>T | CA418208105 | PGM1 | c.384A>T (p.Gly128=) c.438A>T (p.Gly146=) c.-208A>T (n.-208A>T) | |
1 | g.63629563A>C | CA340646317 | PGM1 | c.385A>C (p.Ile129Leu) c.439A>C (p.Ile147Leu) c.-207A>C (n.-207A>C) | |
1 | g.63629563A>G | CA340646322 | PGM1 | c.385A>G (p.Ile129Val) c.439A>G (p.Ile147Val) c.-207A>G (n.-207A>G) | |
1 | g.63629563A>T | CA340646318 | PGM1 | c.385A>T (p.Ile129Phe) c.439A>T (p.Ile147Phe) c.-207A>T (n.-207A>T) | |
1 | g.63629564T>A | CA340646324 | PGM1 | c.386T>A (p.Ile129Asn) c.440T>A (p.Ile147Asn) c.-206T>A (n.-206T>A) | |
1 | g.63629564T>C | CA23832186 | PGM1 | c.386T>C (p.Ile129Thr) c.440T>C (p.Ile147Thr) c.-206T>C (n.-206T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629564T>G | CA340646329 | PGM1 | c.386T>G (p.Ile129Ser) c.440T>G (p.Ile147Ser) c.-206T>G (n.-206T>G) | |
1 | g.63629564T= | CA1143735554 | PGM1 | c.386T= (p.Ile129=) c.440T= (p.Ile147=) c.-206T= (n.-206T=) | |
1 | g.63629565C>A | CA418208119 | PGM1 | c.387C>A (p.Ile129=) c.441C>A (p.Ile147=) c.-205C>A (n.-205C>A) | gnomAD v4 |
1 | g.63629565C>G | CA340646331 | PGM1 | c.387C>G (p.Ile129Met) c.441C>G (p.Ile147Met) c.-205C>G (n.-205C>G) | |
1 | g.63629565C>T | CA418208121 | PGM1 | c.387C>T (p.Ile129=) c.441C>T (p.Ile147=) c.-205C>T (n.-205C>T) | |
1 | g.63629566A>C | CA340646332 | PGM1 | c.388A>C (p.Lys130Gln) c.442A>C (p.Lys148Gln) c.-204A>C (n.-204A>C) | |
1 | g.63629566A>G | CA340646333 | PGM1 | c.388A>G (p.Lys130Glu) c.442A>G (p.Lys148Glu) c.-204A>G (n.-204A>G) | |
1 | g.63629566A>T | CA340646334 | PGM1 | c.388A>T (p.Lys130Ter) c.442A>T (p.Lys148Ter) c.-204A>T (n.-204A>T) | |
1 | g.63629567A>C | CA340646337 | PGM1 | c.389A>C (p.Lys130Thr) c.443A>C (p.Lys148Thr) c.-203A>C (n.-203A>C) | |
1 | g.63629567A>G | CA340646339 | PGM1 | c.389A>G (p.Lys130Arg) c.443A>G (p.Lys148Arg) c.-203A>G (n.-203A>G) | |
1 | g.63629567A>T | CA340646340 | PGM1 | c.389A>T (p.Lys130Ile) c.443A>T (p.Lys148Ile) c.-203A>T (n.-203A>T) | |
1 | g.63629568A= | CA1142373069 | PGM1 | c.390A= (p.Lys130=) c.444A= (p.Lys148=) c.-202A= (n.-202A=) | |
1 | g.63629568A>C | CA340646341 | PGM1 | c.390A>C (p.Lys130Asn) c.444A>C (p.Lys148Asn) c.-202A>C (n.-202A>C) | |
1 | g.63629568A>G | CA889518 | PGM1 | c.390A>G (p.Lys130=) c.444A>G (p.Lys148=) c.-202A>G (n.-202A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629568A>T | CA340646349 | PGM1 | c.390A>T (p.Lys130Asn) c.444A>T (p.Lys148Asn) c.-202A>T (n.-202A>T) | |
1 | g.63629569T>A | CA340646363 | PGM1 | c.391T>A (p.Phe131Ile) c.445T>A (p.Phe149Ile) c.-201T>A (n.-201T>A) | |
1 | g.63629569T>C | CA340646369 | PGM1 | c.391T>C (p.Phe131Leu) c.445T>C (p.Phe149Leu) c.-201T>C (n.-201T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629569T>G | CA340646367 | PGM1 | c.391T>G (p.Phe131Val) c.445T>G (p.Phe149Val) c.-201T>G (n.-201T>G) | |
1 | g.63629569T= | CA1171571130 | PGM1 | c.391T= (p.Phe131=) c.445T= (p.Phe149=) c.-201T= (n.-201T=) | |
1 | g.63629570T>A | CA340646371 | PGM1 | c.392T>A (p.Phe131Tyr) c.446T>A (p.Phe149Tyr) c.-200T>A (n.-200T>A) | |
1 | g.63629570T>C | CA340646373 | PGM1 | c.392T>C (p.Phe131Ser) c.446T>C (p.Phe149Ser) c.-200T>C (n.-200T>C) | |
1 | g.63629570T>G | CA340646376 | PGM1 | c.392T>G (p.Phe131Cys) c.446T>G (p.Phe149Cys) c.-200T>G (n.-200T>G) | |
1 | g.63629571C>A | CA340646378 | PGM1 | c.393C>A (p.Phe131Leu) c.447C>A (p.Phe149Leu) c.-199C>A (n.-199C>A) | |
1 | g.63629571C>G | CA340646380 | PGM1 | c.393C>G (p.Phe131Leu) c.447C>G (p.Phe149Leu) c.-199C>G (n.-199C>G) | |
1 | g.63629571C>T | CA418208143 | PGM1 | c.393C>T (p.Phe131=) c.447C>T (p.Phe149=) c.-199C>T (n.-199C>T) | |
1 | g.63629572A>C | CA340646385 | PGM1 | c.394A>C (p.Asn132His) c.448A>C (p.Asn150His) c.-198A>C (n.-198A>C) | |
1 | g.63629572A>G | CA340646387 | PGM1 | c.394A>G (p.Asn132Asp) c.448A>G (p.Asn150Asp) c.-198A>G (n.-198A>G) | |
1 | g.63629572A>T | CA340646389 | PGM1 | c.394A>T (p.Asn132Tyr) c.448A>T (p.Asn150Tyr) c.-198A>T (n.-198A>T) | |
1 | g.63629573A= | CA1141686073 | PGM1 | c.395A= (p.Asn132=) c.449A= (p.Asn150=) c.-197A= (n.-197A=) | |
1 | g.63629573A>C | CA340646392 | PGM1 | c.395A>C (p.Asn132Thr) c.449A>C (p.Asn150Thr) c.-197A>C (n.-197A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629573A>G | CA889519 | PGM1 | c.395A>G (p.Asn132Ser) c.449A>G (p.Asn150Ser) c.-197A>G (n.-197A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629573A>T | CA340646393 | PGM1 | c.395A>T (p.Asn132Ile) c.449A>T (p.Asn150Ile) c.-197A>T (n.-197A>T) | |
1 | g.63629574T>A | CA340646394 | PGM1 | c.396T>A (p.Asn132Lys) c.450T>A (p.Asn150Lys) c.-196T>A (n.-196T>A) | |
1 | g.63629574T>C | CA418208162 | PGM1 | c.396T>C (p.Asn132=) c.450T>C (p.Asn150=) c.-196T>C (n.-196T>C) | |
1 | g.63629574T>G | CA340646395 | PGM1 | c.396T>G (p.Asn132Lys) c.450T>G (p.Asn150Lys) c.-196T>G (n.-196T>G) | |
1 | g.63629575A>C | CA340646398 | PGM1 | c.397A>C (p.Ile133Leu) c.451A>C (p.Ile151Leu) c.-195A>C (n.-195A>C) | |
1 | g.63629575A>G | CA340646406 | PGM1 | c.397A>G (p.Ile133Val) c.451A>G (p.Ile151Val) c.-195A>G (n.-195A>G) | |
1 | g.63629575A>T | CA340646408 | PGM1 | c.397A>T (p.Ile133Phe) c.451A>T (p.Ile151Phe) c.-195A>T (n.-195A>T) | |
1 | g.63629576T>A | CA340646412 | PGM1 | c.398T>A (p.Ile133Asn) c.452T>A (p.Ile151Asn) c.-194T>A (n.-194T>A) | |
1 | g.63629576T>C | CA340646414 | PGM1 | c.398T>C (p.Ile133Thr) c.452T>C (p.Ile151Thr) c.-194T>C (n.-194T>C) | |
1 | g.63629576T>G | CA340646418 | PGM1 | c.398T>G (p.Ile133Ser) c.452T>G (p.Ile151Ser) c.-194T>G (n.-194T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629576T= | CA1171571131 | PGM1 | c.398T= (p.Ile133=) c.452T= (p.Ile151=) c.-194T= (n.-194T=) | |
1 | g.63629577T>A | CA418208171 | PGM1 | c.399T>A (p.Ile133=) c.453T>A (p.Ile151=) c.-193T>A (n.-193T>A) | ClinVar |
1 | g.63629577T>C | CA889520 | PGM1 | c.399T>C (p.Ile133=) c.453T>C (p.Ile151=) c.-193T>C (n.-193T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629577T>G | CA340646421 | PGM1 | c.399T>G (p.Ile133Met) c.453T>G (p.Ile151Met) c.-193T>G (n.-193T>G) | gnomAD v4 |
1 | g.63629577T= | CA1139851985 | PGM1 | c.399T= (p.Ile133=) c.453T= (p.Ile151=) c.-193T= (n.-193T=) | |
1 | g.63629578T>A | CA340646426 | PGM1 | c.400T>A (p.Ser134Thr) c.454T>A (p.Ser152Thr) c.-192T>A (n.-192T>A) | |
1 | g.63629578T>C | CA340646428 | PGM1 | c.400T>C (p.Ser134Pro) c.454T>C (p.Ser152Pro) c.-192T>C (n.-192T>C) | |
1 | g.63629578T>G | CA340646432 | PGM1 | c.400T>G (p.Ser134Ala) c.454T>G (p.Ser152Ala) c.-192T>G (n.-192T>G) | |
1 | g.63629579C>A | CA340646433 | PGM1 | c.401C>A (p.Ser134Tyr) c.455C>A (p.Ser152Tyr) c.-191C>A (n.-191C>A) | |
1 | g.63629579C= | CA1171571132 | PGM1 | c.401C= (p.Ser134=) c.455C= (p.Ser152=) c.-191C= (n.-191C=) | |
1 | g.63629579C>G | CA889521 | PGM1 | c.401C>G (p.Ser134Cys) c.455C>G (p.Ser152Cys) c.-191C>G (n.-191C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629579C>T | CA340646435 | PGM1 | c.401C>T (p.Ser134Phe) c.455C>T (p.Ser152Phe) c.-191C>T (n.-191C>T) | |
1 | g.63629580T>A | CA418208183 | PGM1 | c.402T>A (p.Ser134=) c.456T>A (p.Ser152=) c.-190T>A (n.-190T>A) | |
1 | g.63629580T>C | CA418208184 | PGM1 | c.402T>C (p.Ser134=) c.456T>C (p.Ser152=) c.-190T>C (n.-190T>C) | |
1 | g.63629580T>G | CA418208186 | PGM1 | c.402T>G (p.Ser134=) c.456T>G (p.Ser152=) c.-190T>G (n.-190T>G) | |
1 | g.63629581A>C | CA340646438 | PGM1 | c.403A>C (p.Asn135His) c.457A>C (p.Asn153His) c.-189A>C (n.-189A>C) | |
1 | g.63629581A>G | CA340646443 | PGM1 | c.403A>G (p.Asn135Asp) c.457A>G (p.Asn153Asp) c.-189A>G (n.-189A>G) | gnomAD v4 |
1 | g.63629581A>T | CA340646440 | PGM1 | c.403A>T (p.Asn135Tyr) c.457A>T (p.Asn153Tyr) c.-189A>T (n.-189A>T) | |
1 | g.63629582A= | CA1171571133 | PGM1 | c.404A= (p.Asn135=) c.458A= (p.Asn153=) c.-188A= (n.-188A=) | |
1 | g.63629582A>C | CA340646450 | PGM1 | c.404A>C (p.Asn135Thr) c.458A>C (p.Asn153Thr) c.-188A>C (n.-188A>C) | |
1 | g.63629582A>G | CA340646453 | PGM1 | c.404A>G (p.Asn135Ser) c.458A>G (p.Asn153Ser) c.-188A>G (n.-188A>G) | |
1 | g.63629582A>T | CA340646456 | PGM1 | c.404A>T (p.Asn135Ile) c.458A>T (p.Asn153Ile) c.-188A>T (n.-188A>T) | dbSNP gnomAD v4 |
1 | g.63629583del | CA2586966707 | PGM1 | c.405del (p.Asn135LysfsTer9) c.459del (p.Asn153LysfsTer9) c.-187del (n.-187del) | |
1 | g.63629583T>A | CA340646458 | PGM1 | c.405T>A (p.Asn135Lys) c.459T>A (p.Asn153Lys) c.-187T>A (n.-187T>A) | |
1 | g.63629583T>C | CA418208194 | PGM1 | c.405T>C (p.Asn135=) c.459T>C (p.Asn153=) c.-187T>C (n.-187T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629583T>G | CA340646460 | PGM1 | c.405T>G (p.Asn135Lys) c.459T>G (p.Asn153Lys) c.-187T>G (n.-187T>G) | |
1 | g.63629583T= | CA1171571134 | PGM1 | c.405T= (p.Asn135=) c.459T= (p.Asn153=) c.-187T= (n.-187T=) | |
1 | g.63629584G>A | CA340646462 | PGM1 | c.406G>A (p.Gly136Arg) c.460G>A (p.Gly154Arg) c.-186G>A (n.-186G>A) | |
1 | g.63629584G>C | CA340646464 | PGM1 | c.406G>C (p.Gly136Arg) c.460G>C (p.Gly154Arg) c.-186G>C (n.-186G>C) | |
1 | g.63629584G>T | CA340646471 | PGM1 | c.406G>T (p.Gly136Ter) c.460G>T (p.Gly154Ter) c.-186G>T (n.-186G>T) | |
1 | g.63629585G>A | CA340646473 | PGM1 | c.407G>A (p.Gly136Glu) c.461G>A (p.Gly154Glu) c.-185G>A (n.-185G>A) | |
1 | g.63629585G>C | CA340646476 | PGM1 | c.407G>C (p.Gly136Ala) c.461G>C (p.Gly154Ala) c.-185G>C (n.-185G>C) | gnomAD v4 |
1 | g.63629585G>T | CA340646477 | PGM1 | c.407G>T (p.Gly136Val) c.461G>T (p.Gly154Val) c.-185G>T (n.-185G>T) |