You can interrogate the database by searching for a genomic position or cDNA position or by codon number in the field Search.
Then by clicking on the (first column) ID number you will open the page with all the data corresponding to the mutation requested. Otherwise, you can download the whole dataset as a flat file.

Variant list

Mutation ID Disease Nucleotide change Protein Mutation PMID
cdc.var.1 HPT-JT c.3G>C p.Met1Ile 12434154
cdc.var.18 HPT-JT c.40delC p.Gln14Argfs*7 12434154
cdc.var.18 HPT-JT c.40delC p.Gln14Argfs*7 16817812 - 17052894
cdc.var.22 FIHP c.61_64del p.Lys21Glufs*4 16995822
cdc.var.41 FIHP c.136_144del5 p.Lys47Argfs*17 16995822
cdc.var.41 FIHP c.136_144del5 p.Lys47Argfs*17 16995822
cdc.var.41 FIHP c.136_144del5 p.Lys47Argfs*17 16995822
cdc.var.23 FIHP c.62_66del p.Lys21Argfs*43 16817812
cdc.var.26 FIHP c.70_73del p.Glu24* 16817812
cdc.var.34 FIHP c.95_102del p.Trp32* 16817812
cdc.var.84 FIHP c.518_521delTGTC p.Ser174Lysfs*27 16817812
cdc.var.84 FIHP c.518_521delTGTC p.Ser174Lysfs*27 16817812
cdc.var.84 FIHP c.518_521delTGTC p.Ser174Lysfs*27 16817812
cdc.var.84 FIHP c.518_521delTGTC p.Ser174Lysfs*27 16817812
cdc.var.84 FIHP c.518_521delTGTC p.Ser174Lysfs*27 16817812
cdc.var.29 HPT-JT c.76delA p.Ile26Serfs*11 12960210 - 20026646
cdc.var.29 HPT-JT c.76delA p.Ile26Serfs*11 12960210 - 20026646
cdc.var.91 HPT-JT c.686_689delGAGT p.Arg229Asnfs*27 12960210 - 18436011 - 20026646
cdc.var.29 HPT-JT c.76delA p.Ile26Serfs*11 21652691
cdc.var.29 HPT-JT c.76delA p.Ile26Serfs*11 21652691
cdc.var.29 HPT-JT c.76delA p.Ile26Serfs*11 21652691
cdc.var.31 HPT-JT c.85delG p.Glu29Serfs*8 19942209
cdc.var.31 HPT-JT c.85delG p.Glu29Serfs*8 19942209
cdc.var.35 HPT-JT c.96G>A p.Trp32* 22302605
cdc.var.35 HPT-JT c.96G>A p.Trp32* 22302605
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.35 HPT-JT c.96G>A p.Trp32* 19169472 - 18436011
cdc.var.2 PHPT sporadic c.4G>T p.Ala2Ser 17639062
cdc.var.69 PHPT sporadic c.272G>C p.Arg91Pro 17639062
cdc.var.40 FIHP c.131+1G>C aberrant splicing exon1 23029479
cdc.var.40 FIHP c.131+1G>A aberrant splicing exon1 16061557
cdc.var.40 FIHP c.131+1G>A aberrant splicing exon1 16061557
cdc.var.40 FIHP c.131+1G>A aberrant splicing exon1 15531515
cdc.var.40 FIHP c.131+1G>A aberrant splicing exon1 15531515
cdc.var.40 FIHP c.131+1G>A aberrant splicing exon1 15531515
cdc.var.41 HPT-JT c.136_144del5 p.Lys47Argfs*17 1875585 - 19529956 - 24842573
cdc.var.41 HPT-JT c.136_144del5 p.Lys47Argfs*17 1875585 - 19529956 - 24842574
cdc.var.41 HPT-JT c.136_144del5 p.Lys47Argfs*17 1875585 - 19529956 - 24842575
cdc.var.41 HPT-JT c.136_144del5 p.Lys47Argfs*17 1875585 - 19529956 - 24842576
cdc.var.41 HPT-JT c.136_144del5 p.Lys47Argfs*17 1875585 - 19529956 - 24842577
cdc.var.50 FIHP c.179T>A p.Ile60Asn 1875585 - 19529956 - 24842573
cdc.var.42 HPT-JT c.142G>T p.Glu48* 21732217
cdc.var.112 HPT-JT c.1475G>A p.Trp492* 21732217
cdc.var.112 HPT-JT c.1475G>A p.Trp492* 21732217
cdc.var.112 HPT-JT c.1475G>A p.Trp492* 21732217
cdc.var.43 FIHP c.157G>T p.Glu53* 24716902
cdc.var.43 FIHP c.157G>T p.Glu53* 24716902
cdc.var.45 HPT-JT c.164A>C p.Tyr55Ser 25444225
cdc.var.45 HPT-JT c.164A>C p.Tyr55Ser 25444225
cdc.var.46 HPT-JT c.165C>A p.Tyr55* 20483674
cdc.var.47 HPT-JT c.165C>G p.Tyr55* 12434154
cdc.var.52 FIHP c.188T>C p.Leu63Pro 20052758
cdc.var.3 HPT-JT c.12_31dup p.Tyr11Cysfs*17 12434154
cdc.var.52 HPT-JT c.188T>C p.Leu63Pro 20052758
cdc.var.52 HPT-JT c.188T>C p.Leu63Pro 19529956
cdc.var.52 HPT-JT c.188T>C p.Leu63Pro 19529956
cdc.var.52 HPT-JT c.188T>C p.Leu63Pro 19529956
cdc.var.52 HPT-JT c.188T>C p.Leu63Pro 19529956
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.52 FIHP c.188T>C p.Leu63Pro 18755853
cdc.var.77 FIHP c.375_376insAA p.Arg126Asnfs*8 18755853
cdc.var.53 FIHP c.191T>C p.Leu64Pro 12960210 - 20026646
cdc.var.53 FIHP c.191T>C p.Leu64Pro 12960210 - 20026646
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.53 FIHP c.191T>C p.Leu64Pro 14985403
cdc.var.54 FIHP c.194dupA p.Asn65Lysfs*2 26568659
cdc.var.54 FIHP c.194dupA p.Asn65Lysfs*2 26568859
cdc.var.57 HPT-JT c.205dupC p.Leu69Profs*13 21324824
cdc.var.57 HPT-JT c.205dupC p.Leu69Profs*13 21324824
cdc.var.57 HPT-JT c.205dupC p.Leu69Profs*13 21324824
cdc.var.57 HPT-JT c.205dupC p.Leu69Profs*13 21324824
cdc.var.57 HPT-JT c.205dupC p.Leu69Profs*13 21324824
cdc.var.59 HPT-JT c.226C>T p.Arg76* 20052758
cdc.var.59 HPT-JT c.226C>T p.Arg76* 21360064
cdc.var.59 HPT-JT c.226C>T p.Arg76* 21360064
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.61 FIHP c.237+1G>C(IVS2+1G-C) skipping exon 3 14985403
cdc.var.4 HPT-JT c.13_30del p.Leu5_Gln10del 15613436 - 20541447
cdc.var.31 HPT-JT c.85delG p.Glu29Serfs*8 15613436 - 20541447
cdc.var.62 HPT-JT c.238-1G>A(IVS2-1G>A) skipping exon 3 15613436
cdc.var.62 HPT-JT c.238-1G>A(IVS2-1G>A) skipping exon 3 15613436
cdc.var.63 HPT-JT c.242_253del12 p.Glu81_Pro84del 24340015
cdc.var.63 HPT-JT c.242_253del12 p.Glu81_Pro84del 24340015
cdc.var.63 HPT-JT c.242_253del12 p.Glu81_Pro84del 24340015
cdc.var.65 HPT-JT c.251delC p.Pro84Leufs*25 NA
cdc.var.65 HPT-JT c.251delC p.Pro84Leufs*25 NA
cdc.var.65 HPT-JT c.251delC p.Pro84Leufs*25 NA
cdc.var.66 HPT-JT c.252_257del6 p.Val85_Val86del 24340015
cdc.var.66 HPT-JT c.252_257del6 p.Val85_Val86del 24340015
cdc.var.66 HPT-JT c.252_257del6 p.Val85_Val86del 24340015
cdc.var.66 HPT-JT c.252_257del6 p.Val85_Val86del 24340015
cdc.var.66 HPT-JT c.252_257del6 p.Val85_Val86del 24340015
cdc.var.70 HPT-JT c.284T>C p.Leu95Pro 20304979
cdc.var.70 HPT-JT c.284T>C p.Leu95Pro 20304979
cdc.var.70 HPT-JT c.284T>C p.Leu95Pro 20304979
cdc.var.70 FIHP c.284T>C p.Leu95Pro 16487440
cdc.var.75 FIHP c.356delA p.Gln119Argfs*14 16487440
cdc.var.71 HPT-JT c.306_307+13del p.Ser103Asnfs*5 12434154
cdc.var.72 FIHP c.307+1G>A skipping exon 3 24418033 - 24716902
cdc.var.72 FIHP c.307+1G>A skipping exon 3 24418033 - 24716902
cdc.var.74 PHPT sporadic c.343G>T p.Glu115* 19092296 - 24145611 - 19081034
cdc.var.74 PHPT sporadic c.343G>T p.Glu115* 19092296 - 24145611 - 19081034
cdc.var.74 PHPT sporadic c.343G>T p.Glu115* 19092296 - 24145611 - 19081034
cdc.var.74 PHPT sporadic c.343G>T p.Glu115* 19092296 - 24145611 - 19081034
cdc.var.75 HPT-JT c.356delA p.Gln119Argfs*14 12434154
cdc.var.78 HPT-JT c.406A>T p.Lys136* 12434154
cdc.var.6 HPT-JT c.14_17dupTTAG p.Val7* 26121439
cdc.var.6 HPT-JT c.14_17dupTTAG p.Val7* 26121439
cdc.var.79 HPT-JT c.415C>T p.Arg139* 26121439
cdc.var.79 HPT-JT c.415C>T p.Arg139* 17468190 - 19081034
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 19529956
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 18755853
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*55 18755853
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*56 18755853
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*57 18755853
cdc.var.81 HPT-JT c.433_442delinsAGA p.Cys145Argfs*58 18755853
cdc.var.82 FIHP c.505C>T p.Gln169* 24121387
cdc.var.82 FIHP c.505C>T p.Gln169* 24121387
cdc.var.82 FIHP c.505C>T p.Gln169* 24121387
cdc.var.84 HPT-JT c.518_521delTCTC p.Ser174Lysfs*27 19081034
cdc.var.84 HPT-JT c.518_521delTCTC p.Ser174Lysfs*27 19081034
cdc.var.86 HPT-JT c.639delT p.Phe213Leufs*6 12434154
cdc.var.87 HPT-JT c.664C>T p.Arg222* 26121439
cdc.var.87 HPT-JT c.664C>T p.Arg222* 26121439
cdc.var.87 HPT-JT c.664C>T p.Arg222* 26121439
cdc.var.87 FIHP c.664C>T p.Arg222* 24716902
cdc.var.87 FIHP c.664C>T p.Arg222*