V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130049172 | 10914735 | 130018188 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2016-07-21 | 3)receiveddate | 2016-07-29 | 2016-07-21 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130049173 | 10974591 | 130018189 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.37G>C | c.37G>C | 2019-11-20 | 3)receiveddate | 2018-07-28 | 2019-11-20 | p.(Lys117Asn) | 1 | p.(Lys117Asn) | Pyrosequencing | Birmingham (molecular lab) |
| 130049174 | 10675014 | 130018190 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.436G>A | c.436G>A | 2018-11-04 | 3)receiveddate | 2018-11-08 | 2018-11-04 | p.Ala146Thr | 1 | p.Ala146Thr | Pyrosequencing | Birmingham (molecular lab) |
| 130049175 | 10842053 | 130018191 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-10-18 | 1)authoriseddate | 2019-11-07 | 2019-10-18 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130049176 | 11184802 | 130018192 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-05 | 3)receiveddate | 2018-05-26 | 2018-05-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049177 | 10625273 | 130018193 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2019-01-21 | 1)authoriseddate | 2019-02-14 | 2019-01-22 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Nottingham (molecular lab) |
| 130049178 | 11489103 | 130018194 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>C | c.35G>C | 2019-06-16 | 3)receiveddate | 2019-06-30 | 2019-06-16 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Birmingham (molecular lab) |
| 130049179 | 10716250 | 130018195 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-01-20 | 1)authoriseddate | 2018-12-14 | 2019-01-20 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049180 | 11917786 | 130018196 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-05-15 | 3)receiveddate | 2018-05-19 | 2018-05-15 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130049181 | 10383861 | 130018197 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-21 | 3)receiveddate | 2019-03-16 | 2019-02-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049182 | 10759525 | 130018198 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-09-02 | 3)receiveddate | 2018-09-30 | 2018-09-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049184 | 10293302 | 130018200 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-05 | 1)authoriseddate | 2017-03-26 | 2017-03-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049185 | 11968950 | 130018201 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2017-07-13 | 3)receiveddate | 2017-06-28 | 2017-07-13 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049186 | 11178430 | 130018202 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-03-06 | 1)authoriseddate | 2019-03-27 | 2019-03-06 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130049187 | 10408596 | 130018203 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-04-05 | 3)receiveddate | 2016-04-01 | 2016-04-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049188 | 10701589 | 130018204 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-31 | 1)authoriseddate | 2019-08-24 | 2019-07-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049189 | 11925460 | 130018205 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-17 | 1)authoriseddate | 2019-08-15 | 2019-07-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049190 | 10244331 | 130018206 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-06-16 | 1)authoriseddate | 2019-06-17 | 2019-06-16 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130049191 | 11008311 | 130018207 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2017-11-26 | 1)authoriseddate | 2017-12-25 | 2017-11-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049192 | 11388085 | 130018208 | KRAS | 47 | 2 | 2 | 2 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-07-07 | 1)authoriseddate | 2018-06-08 | 2018-07-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130049193 | 10822277 | 130018209 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-07-16 | 1)authoriseddate | 2017-07-18 | 2017-07-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049194 | 11332317 | 130018210 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.351A>T | c.351A>T | 2018-02-15 | 1)authoriseddate | 2018-02-16 | 2018-02-23 | p.(Gly12Asp),p.G12X | 2 | multiple | Pyrosequencing | Birmingham (molecular lab) |
| 130049195 | 10201193 | 130018211 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-08 | 3)receiveddate | 2018-01-31 | 2018-01-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049196 | 11319301 | 130018212 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-09-26 | 1)authoriseddate | 2018-10-23 | 2018-09-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049197 | 11524709 | 130018213 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-24 | 1)authoriseddate | 2019-02-13 | 2019-01-24 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130049198 | 11802832 | 130018214 | KRAS | 47 | 2 | 2 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-10-29 | 3)receiveddate | 2018-10-13 | 2018-10-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049199 | 10485510 | 130018215 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-16 | 3)receiveddate | 2016-12-19 | 2017-04-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049200 | 11807729 | 130018216 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-11-28 | 1)authoriseddate | 2017-12-24 | 2017-11-28 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130049201 | 10866763 | 130018217 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-04-04 | 1)authoriseddate | 2019-04-28 | 2019-04-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049202 | 10355310 | 130018218 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-25 | 1)authoriseddate | 2019-08-09 | 2019-07-25 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049203 | 11806588 | 130018220 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-01-23 | 1)authoriseddate | 2016-12-06 | 2017-01-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049204 | 11936813 | 130018221 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.437C>T | c.437C>T | 2018-02-23 | 3)receiveddate | 2017-09-05 | 2018-02-23 | p.Ala146Val | 1 | p.Ala146Val | Pyrosequencing | Birmingham (molecular lab) |
| 130049205 | 10606038 | 130018222 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-05 | 3)receiveddate | 2018-04-30 | 2018-05-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049206 | 11496773 | 130018224 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2019-08-19 | 3)receiveddate | 2019-07-24 | 2019-08-19 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130049207 | 11877331 | 130018225 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-08-29 | 3)receiveddate | 2017-08-13 | 2017-08-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049208 | 10183955 | 130018226 | KRAS | 47 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-07-27 | 3)receiveddate | 2017-08-05 | 2017-07-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130049209 | 11344478 | 130018227 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-01-10 | 1)authoriseddate | 2018-02-06 | 2018-07-07 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130049210 | 10117728 | 130018228 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-02-16 | 1)authoriseddate | 2018-02-21 | 2018-02-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049211 | 11284111 | 130018229 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-06 | 1)authoriseddate | 2019-10-17 | 2019-10-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049213 | 10408266 | 130018231 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-06-25 | 3)receiveddate | 2019-06-28 | 2019-06-25 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Dideoxy/Sanger | Cambridge (molecular lab) |
| 130049214 | 10807412 | 130018232 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>A | c.34G>A | 2019-01-30 | 1)authoriseddate | 2019-02-09 | 2019-02-02 | p.Gly12Ser | 1 | p.Gly12Ser | Pyrosequencing | Exeter (molecular lab) |
| 130049215 | 11747413 | 130018233 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-03 | 3)receiveddate | 2018-12-26 | 2019-01-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049216 | 10827311 | 130018234 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-23 | 1)authoriseddate | 2019-08-06 | 2019-08-23 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049217 | 11992071 | 130018235 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-14 | 3)receiveddate | 2019-08-04 | 2019-07-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049218 | 10363456 | 130018236 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-05-01 | 1)authoriseddate | 2019-04-18 | 2019-05-01 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049219 | 11194747 | 130018237 | KRAS | 47 | 2 | 2 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-11-02 | 1)authoriseddate | 2018-11-23 | 2018-11-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130049220 | 10375686 | 130018238 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-06 | 1)authoriseddate | 2017-07-25 | 2018-01-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049221 | 10087315 | 130018239 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-03-19 | 1)authoriseddate | 2016-03-31 | 2016-03-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130049222 | 11636572 | 130018241 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2018-02-10 | 3)receiveddate | 2017-12-30 | 2018-03-01 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049223 | 11267323 | 130018242 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>C | c.34G>C | 2019-09-20 | 3)receiveddate | 2019-09-30 | 2019-09-20 | p.(Gly12Arg) | 1 | p.(Gly12Arg) | Pyrosequencing | Cambridge (molecular lab) |