7 | vcZ27DUN6 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/C | Y | N, D | AAT, GAT | |
14 | vcZ27DUN5 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | G/A | R | I | ATC, ATT | - |
20 | TBGI147746 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/C/G | V | L, W | TTG, TGG | |
20 | TBGI147746 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/C/G | V | L, S | TTG, TCG | |
36 | vcZ27DUN3 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | E, K | GAA, AAA | |
69 | vcZ27DUN1 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/C | Y | Y, C | TAT, TGT | |
76 | vcZ27DUMZ | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | L, P | CTC, CCC | |
76 | vcZ27DUN0 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | L, F | CTC, TTC | |
77 | vcZ27DUMY | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/A | W | Q, L | CAG, CTG | |
77 | 10317704892 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | C/T | Y | Q | CAG, CAA | - |
78 | vcZ27DUMW | A sequence_variant which is predicted to change the protein encoded in the coding sequenceprotein altering variant | EVA | - |
AT/AATGTCCTTC...
AT/AATGTCCTTCA
| - | H, LKDI |
CAT, CTG...
CAT, CTGAAGGACATT
| - |
82 | rs19552519 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | R, Q | CGG, CAG | |
84 | vcZ27DUMO | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intronsplice region variant | EVA | - | G/A | R | T, M | ACG, ATG | |
105 | rs19552509 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/A | M | A, S | GCT, TCT | |
116 | TBGI147742 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | T/C | Y | V | GTA, GTG | - |
136 | vcZ27DUMF | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | L, S | TTA, TCA | |
149 | vcZ27DUME | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | R, C | CGC, TGC | |
151 | vcZ27DUMD | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | G/A | R | D | GAC, GAT | - |
165 | vcZ27DUMC | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | V, I | GTT, ATT | |
177 | vcZ27DUMB | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | M, I | ATG, ATA | |
181 | rs53138548 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | M, T | ATG, ACG | |
181 | rs53376385 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/G | S | M, I | ATG, ATC | |
184 | rs54163678 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/C | M | L, V | TTA, GTA | |
184 | rs53814365 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | L, S | TTA, TCA | |
192 | rs54163037 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/C | Y | K, R | AAG, AGG | |
194 | vcZ27DUMA | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | A/G | R | F | TTT, TTC | - |
195 | rs54041103 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | T/C | Y | Q | CAA, CAG | - |
202 | vcZ27DUM8 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | R, S | CGC, AGC | |
217 | vcZ27DUM7 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | S, L | TCG, TTG | |
218 | rs53818633 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | E, K | GAG, AAG | |
220 | rs54327780 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | G/T | K | S | TCC, TCA | - |
243 | rs53308248 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/G | S | A, P | GCA, CCA | |
255 | rs19552469 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/A | M | G, W | GGG, TGG | |
259 | rs53298238 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/C | M | C, W | TGT, TGG | |
267 | rs19552459 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | N, K | AAC, AAA | |
269 | rs53849942 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | S, P | TCT, CCT | |
288 | vcZ27DUM4 | A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcriptstop gained | EVA | - | G/C | S | Y, * | TAC, TAG | - |
289 | vcZ27DUM3 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/C | Y | R, G | AGA, GGA | |
302 | vcZ27DUM2 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | L, M | CTG, ATG | |
326 | vcZ27DUM1 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/T | Y | G, E | GGA, GAA | |
326 | rs53775766 | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | T/C | Y | G | GGA, GGG | - |
328 | vcZ27DUM0 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | L, I | CTC, ATC | |
345 | vcZ27DULZ | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | C/T | Y | L | TTG, TTA | - |
359 | rs19552449 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/A | W | E, V | GAA, GTA | |
384 | rs19552439 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | T/A | W | Q, H | CAA, CAT | |
387 | 10317703579 | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | L, F | CTC, TTC | |
397 | vcZ27DULV | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | T/G | K | R | AGG, CGG | - |
412 | vcZ27DULU | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | C/A | M | E, D | GAG, GAT | |
440 | vcZ27DULT | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | A/G | R | I | ATT, ATC | - |
444 | vcZ27DULS | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | S, R | AGC, AGA | |
468 | vcZ27DULO | A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of threeframeshift variant | EVA | - | ACC/AC | - | WF, CX |
TGGTTT, ...
TGGTTT, TGTTT
| - |
479 | vcZ27DULN | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | T, M | ACG, ATG | |
488 | vcZ27DULM | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/T | K | L, I | CTC, ATC | |
488 | vcZ27DULL | A sequence variant where there is no resulting change to the encoded amino acidsynonymous variant | EVA | - | G/A | R | L | CTC, CTT | - |
490 | vcZ27DULK | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | G/A | R | P, L | CCT, CTT | |
493 | vcZ27DULJ | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preservedmissense variant | EVA | - | A/G | R | V, A | GTC, GCC | |
507 | vcZ27DULI | An inframe non synonymous variant that inserts bases into in the coding sequenceinframe insertion | EVA | - |
GG/GGCTGCTG...
GG/GGCTGCTG
| - | P, QQP |
CCG, CAG...
CCG, CAGCAGCCG
| - |