| | KRTAP5-2, KRTAP5-AS1 (Q174H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (C152G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (S110F) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (C56R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (G53S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (C42F) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G207S) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (A166S) | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | KRTAP5-1, KRTAP5-AS1 (P64A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (V52G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (Q11R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (S124R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (C157R) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G192V) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (C111Y) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G188S) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (V151L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G22R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G231R) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (C56S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (R95W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (P118S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (S219G) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (C69Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (A224V) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (R55H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (V151M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (V66M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G88D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (G99V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (C35Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (G122S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (A224T) | Single nucleotide variant (missense variant) | not specified | |
| | KRTAP5-2, KRTAP5-AS1 (S90Y) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KRTAP5-1, KRTAP5-AS1 (A224S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005123, LOC130005124
+204 more | Copy number gain | See cases | |
| | LOC106799843, LOC106865369
+388 more | Copy number gain | See cases | |
| | KRTAP5-6, KRTAP5-AS1
+129 more | Copy number loss | See cases | |
| | LOC130005128, LOC130005129
+723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC106783508, LOC106799843
+271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E
+328 more | Deletion | Thalassemia, gamma-delta-beta | |