Canonical Allele Identifier: CA860553185
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1383801185

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515789_131515790insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC , CM000671.2:g.131515789_131515790insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC GRCh38
NC_000009.11:g.134391176_134391177insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC , CM000671.1:g.134391176_134391177insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC GRCh37
NC_000009.10:g.133380997_133380998insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NCBI36
NG_008896.1:g.17888_17889insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NG_008896.2:g.17888_17889insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000343034.7:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000404875.7:n.1812+267_1812+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000423007.6:c.1329+267_1329+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000404119.2:n.1329+267_1329+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000677295.2:c.*1616+267_*1616+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504346.2:n.*1616+267_*1616+268insTTAGAGGAAGTGCTCCCTG...
ENST00000678264.2:c.*1455+267_*1455+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503157.2:n.*1455+267_*1455+268insTTAGAGGAAGTGCTCCCTG...
ENST00000682070.1:n.1737+267_1737+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000682539.1:c.97+267_97+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000682813.1:n.1537+267_1537+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000683392.1:n.4019+267_4019+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000683712.1:n.1677+267_1677+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000683900.1:n.3172+267_3172+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000684062.1:n.1938+267_1938+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000684579.1:n.3118+267_3118+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000341012.12:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000343034.7:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000372220.5:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000361294.5:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000372228.9:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000361302.3:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000402686.8:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC MANE Select ENSP00000385797.4:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000676640.1:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503281.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000676803.1:c.447+267_447+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503093.1:n.447+267_447+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000676835.1:c.*487+267_*487+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000502911.1:n.*487+267_*487+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000677029.1:c.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000502936.1:n.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000677099.1:c.*982+267_*982+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504553.1:n.*982+267_*982+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000677216.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503772.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000677295.1:c.*649+267_*649+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504346.1:n.*649+267_*649+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000677444.1:c.1078+267_1078+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000677586.1:n.753+267_753+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000677626.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503552.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000677677.1:n.1232+267_1232+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000677853.1:c.*280+267_*280+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503488.1:n.*280+267_*280+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000677944.1:c.534+267_534+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000678264.1:c.*649+267_*649+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503157.1:n.*649+267_*649+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000678303.1:c.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503696.1:n.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000678366.1:c.*1521+267_*1521+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504353.1:n.*1521+267_*1521+268insTTAGAGGAAGTGCTCCCTG...
ENST00000678546.1:c.*1217+267_*1217+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503062.1:n.*1217+267_*1217+268insTTAGAGGAAGTGCTCCCTG...
ENST00000678548.1:c.*1344+267_*1344+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503934.1:n.*1344+267_*1344+268insTTAGAGGAAGTGCTCCCTG...
ENST00000678626.1:n.969+267_969+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000678733.1:c.353+267_353+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000678739.1:c.*1598+267_*1598+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503806.1:n.*1598+267_*1598+268insTTAGAGGAAGTGCTCCCTG...
ENST00000678795.1:n.359+267_359+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000678833.1:c.*719+267_*719+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503893.1:n.*719+267_*719+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000678942.1:c.452+267_452+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504690.1:n.452+267_452+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000679023.1:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503718.1:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000679076.1:c.891+267_891+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
ENST00000679111.1:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000504257.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000679189.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000503356.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000341012.11:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000343034.7:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000372228.7:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000361302.3:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000402686.7:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000385797.3:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000404875.6:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000384531.2:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAG...
ENST00000423007.5:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC ENSP00000404119.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTG...
ENST00000485278.5:n.1827+267_1827+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NM_001077365.1:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001070833.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001077366.1:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001070834.1:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001136113.1:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001129585.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001136114.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001129586.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_007171.3:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_009102.3:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAG...
XM_005272156.1:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_005272213.1:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_005272158.1:c.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_005272215.1:n.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_005272159.1:c.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_005272216.1:n.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_005272162.1:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_005272219.1:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_006716932.1:c.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_006716995.1:n.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_011518140.1:c.1191+267_1191+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516442.1:n.1191+267_1191+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518141.1:c.1125+267_1125+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516443.1:n.1125+267_1125+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518142.1:c.1029+267_1029+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516444.1:n.1029+267_1029+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518143.1:c.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516445.1:n.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518144.1:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516446.1:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518145.1:c.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516447.1:n.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_011518146.1:c.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516448.1:n.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XR_929703.1:n.1514+267_1514+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NM_001353193.1:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340122.1:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353194.1:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340123.1:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353195.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340124.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001353196.1:c.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340125.1:n.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353197.1:c.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340126.1:n.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353198.1:c.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340127.1:n.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353199.1:c.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340128.1:n.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001353200.1:c.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340129.1:n.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NR_148391.1:n.1322+267_1322+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148392.1:n.1540+267_1540+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148393.1:n.1322+267_1322+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148394.1:n.1215+267_1215+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148395.1:n.1474+267_1474+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148396.1:n.1108+267_1108+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148397.1:n.1372+267_1372+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148398.1:n.1327+267_1327+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148399.1:n.1714+267_1714+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148400.1:n.1313+267_1313+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
XM_005272162.3:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_005272219.1:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_006716932.2:c.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_006716995.1:n.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_011518140.2:c.1191+267_1191+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516442.1:n.1191+267_1191+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518141.2:c.1125+267_1125+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516443.1:n.1125+267_1125+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518142.2:c.1029+267_1029+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516444.1:n.1029+267_1029+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518143.2:c.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516445.1:n.1023+267_1023+268insTTAGAGGAAGTGCTCCCTGTGAGG...
XM_011518145.2:c.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_011516447.1:n.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_017014205.2:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_016869694.1:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_024447380.1:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_024303148.1:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_024447381.1:c.447+267_447+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_024303149.1:n.447+267_447+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XM_024447382.1:c.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC XP_024303150.1:n.141+267_141+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
XR_001746160.2:n.1442+267_1442+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
XR_001746162.2:n.1508+267_1508+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
XR_001746164.1:n.1225+267_1225+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
XR_001746166.2:n.1659+267_1659+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NM_001077365.2:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC MANE Select NP_001070833.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001077366.2:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001070834.1:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001136113.2:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001129585.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001136114.2:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001129586.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001353193.2:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340122.2:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353194.2:c.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340123.1:n.1110+267_1110+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353195.2:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340124.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001353196.2:c.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340125.1:n.1182+267_1182+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353197.2:c.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340126.2:n.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353198.2:c.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340127.2:n.1176+267_1176+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001353199.2:c.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340128.2:n.987+267_987+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001353200.2:c.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001340129.1:n.816+267_816+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001374689.1:c.1260+267_1260+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361618.1:n.1260+267_1260+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001374690.1:c.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361619.1:n.1272+267_1272+268insTTAGAGGAAGTGCTCCCTGTGAGG...
NM_001374691.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361620.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001374692.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361621.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001374693.1:c.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361622.1:n.921+267_921+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_001374695.1:c.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_001361624.1:n.882+267_882+268insTTAGAGGAAGTGCTCCCTGTGAGGAA...
NM_007171.4:c.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC NP_009102.4:n.1338+267_1338+268insTTAGAGGAAGTGCTCCCTGTGAGGAAG...
NR_148391.2:n.1306+267_1306+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148392.2:n.1524+267_1524+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148393.2:n.1306+267_1306+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148394.2:n.1199+267_1199+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148395.2:n.1458+267_1458+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148396.2:n.1092+267_1092+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148397.2:n.1356+267_1356+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148398.2:n.1311+267_1311+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148399.2:n.1698+267_1698+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC
NR_148400.2:n.1297+267_1297+268insTTAGAGGAAGTGCTCCCTGTGAGGAAGTGCTCC