| 21 | g.45990404_45990615delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT | CA2392434118 | COL6A1 | c.984_1003-158delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT
| |
| 21 | g.45990416_45990626del | CA1022879599 | COL6A1 | c.996_1003-147del
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990428_45990545del | CA1022879645 | COL6A1 | c.1002+6_1002+123del
| gnomAD v3 gnomAD v4 |
| 21 | g.45990428_45990638del | CA2573157625 | COL6A1 | c.1002+6_1003-135del
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990428_45990605del | CA2560934595 | COL6A1 | c.1002+6_1003-168del (n.1002+6_1003-168del)
| |
| 21 | g.45990443_45990552del | CA1022879733 | COL6A1 | c.1002+21_1002+130del (n.1002+21_1002+130del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990443_45990563delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG | CA2392434157 | COL6A1 | c.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG (n.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG)
| |
| 21 | g.45990459_45990568del | CA1022879749 | COL6A1 | c.1002+37_1002+146del (n.1002+37_1002+146del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990457_45990576del | CA1022879748 | COL6A1 | c.1002+35_1002+154del (n.1002+35_1002+154del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990453_45990552del | CA1022879780 | COL6A1 | c.1002+31_1002+130del (n.1002+31_1002+130del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990458_45990605del | CA2654959029 | COL6A1 | c.1002+36_1003-168del (n.1002+36_1003-168del)
| gnomAD v4 |
| 21 | g.45990453_45990553delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA | CA2392434169 | COL6A1 | c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA (n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA)
| |
| 21 | g.45990459_45990558del | CA1022879794 | COL6A1 | c.1002+37_1002+136del (n.1002+37_1002+136del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990459_45990578del | CA1022879814 | COL6A1 | c.1002+37_1002+156del (n.1002+37_1002+156del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990458_45990595del | CA2546751618 | COL6A1 | c.1002+36_1002+173del (n.1002+36_1002+173del)
| gnomAD v4 |
| 21 | g.45990459_45990559delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG | CA2392434179 | COL6A1 | c.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG (n.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG)
| |
| 21 | g.45990459_45990569delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG | CA2392434178 | COL6A1 | c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG (n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG)
| |
| 21 | g.45990465_45990602del | CA1022879821 | COL6A1 | c.1002+43_1003-171del (n.1002+43_1003-171del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC | CA1022879829 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990463_45990552del | CA2654959135 | COL6A1 | c.1002+41_1002+130del (n.1002+41_1002+130del)
| gnomAD v4 |
| 21 | g.45990465_45990564del | CA10069993 | COL6A1 | c.1002+43_1002+142del (n.1002+43_1002+142del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990465_45990574del | CA1022879833 | COL6A1 | c.1002+43_1002+152del (n.1002+43_1002+152del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990466_45990562del | CA2654959182 | COL6A1 | c.1002+44_1002+140del (n.1002+44_1002+140del)
| gnomAD v4 |
| 21 | g.45990465_45990554del | CA638178919 | COL6A1 | c.1002+43_1002+132del (n.1002+43_1002+132del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC | CA1022880802 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990472_45990581dup | CA2654970381 | COL6A1 | c.1002+50_1002+159dup (n.1002+50_1002+159dup)
| gnomAD v4 |
| 21 | g.45990472_45990581del | CA1022880273 | COL6A1 | c.1002+50_1002+159del (n.1002+50_1002+159del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990467_45990559del | CA1022881037 | COL6A1 | c.1002+45_1002+137del (n.1002+45_1002+137del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990470_45990561del | CA2654972356 | COL6A1 | c.1002+48_1002+139del (n.1002+48_1002+139del)
| gnomAD v4 |
| 21 | g.45990471_45990565del | CA2654972355 | COL6A1 | c.1002+49_1002+143del (n.1002+49_1002+143del)
| gnomAD v4 |
| 21 | g.45990472_45990571del | CA2516097887 | COL6A1 | c.1002+50_1002+149del (n.1002+50_1002+149del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990471_45990575del | CA2654972354 | COL6A1 | c.1002+49_1002+153del (n.1002+49_1002+153del)
| gnomAD v4 |
| 21 | g.45990556_45990557insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA | CA2654972398 | COL6A1 | c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA (n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA)
| gnomAD v4 |
| 21 | g.45990474_45990560del | CA2654972394 | COL6A1 | c.1002+52_1002+138del (n.1002+52_1002+138del)
| gnomAD v4 |
| 21 | g.45990474_45990563del | CA2591412826 | COL6A1 | c.1002+52_1002+141del (n.1002+52_1002+141del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990473_45990566del | CA2654972395 | COL6A1 | c.1002+51_1002+144del (n.1002+51_1002+144del)
| gnomAD v4 |
| 21 | g.45990476_45990585dup | CA2654972397 | COL6A1 | c.1002+54_1002+163dup (n.1002+54_1002+163dup)
| gnomAD v4 |
| 21 | g.45990482_45990581dup | CA2654972415 | COL6A1 | c.1002+60_1002+159dup (n.1002+60_1002+159dup)
| gnomAD v4 |
| 21 | g.45990479_45990588del | CA2818093066 | COL6A1 | c.1002+57_1002+166del (n.1002+57_1002+166del)
| |
| 21 | g.45990490_45990569del | CA1022881206 | COL6A1 | c.1002+68_1002+147del (n.1002+68_1002+147del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990487_45990576del | CA2654972423 | COL6A1 | c.1002+65_1002+154del (n.1002+65_1002+154del)
| gnomAD v4 |
| 21 | g.45990490_45990579del | CA638178938 | COL6A1 | c.1002+68_1002+157del (n.1002+68_1002+157del)
| gnomAD v2 gnomAD v4 |
| 21 | g.45990490_45990607del | CA638178939 | COL6A1 | c.1002+68_1003-166del (n.1002+68_1003-166del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990490_45990618delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG | CA2392434242 | COL6A1 | c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG (n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG)
| |
| 21 | g.45990492_45990571del | CA2654972463 | COL6A1 | c.1002+70_1002+149del (n.1002+70_1002+149del)
| gnomAD v4 |
| 21 | g.45990499_45990626del | CA1022881350 | COL6A1 | c.1002+77_1003-147del (n.1002+77_1003-147del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990512_45990546dup | CA512713668 | COL6A1 | c.1002+90_1002+124dup (n.1002+90_1002+124dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990512_45990546del | CA2654972490 | COL6A1 | c.1002+90_1002+124del (n.1002+90_1002+124del)
| dbSNP gnomAD v4 |
| 21 | g.45990501_45990583del | CA2654972491 | COL6A1 | c.1002+79_1002+161del (n.1002+79_1002+161del)
| gnomAD v4 |
| 21 | g.45990513_45990640del | CA1022881433 | COL6A1 | c.1002+91_1003-133del (n.1002+91_1003-133del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972495 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990513_45990546dup | CA1022881466 | COL6A1 | c.1002+91_1002+124dup (n.1002+91_1002+124dup)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990511_45990565del | CA2654972516 | COL6A1 | c.1002+89_1002+143del (n.1002+89_1002+143del)
| gnomAD v4 |
| 21 | g.45990568_45990569insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG | CA2654972522 | COL6A1 | c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG (n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972521 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
| 21 | g.45990522_45990566del | CA2654972526 | COL6A1 | c.1002+100_1002+144del (n.1002+100_1002+144del)
| gnomAD v4 |
| 21 | g.45990529_45990583dup | CA2516619849 | COL6A1 | c.1002+107_1002+161dup (n.1002+107_1002+161dup)
| |
| 21 | g.45990529_45990583del | CA1022881474 | COL6A1 | c.1002+107_1002+161del (n.1002+107_1002+161del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990518_45990552dup | CA1022881488 | COL6A1 | c.1002+96_1002+130dup (n.1002+96_1002+130dup)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990518_45990552del | CA2654972529 | COL6A1 | c.1002+96_1002+130del (n.1002+96_1002+130del)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2550858718 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA1022881490 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881496 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972535 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990520_45990612del | CA2654972536 | COL6A1 | c.1002+98_1003-161del (n.1002+98_1003-161del)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972542 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972547 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881517 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC | CA2654972554 | COL6A1 | c.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881537 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC | CA2654972555 | COL6A1 | c.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972556 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990532_45990624del | CA1022881555 | COL6A1 | c.1002+110_1003-149del (n.1002+110_1003-149del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC | CA2654972564 | COL6A1 | c.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990527_45990571del | CA2654972562 | COL6A1 | c.1002+105_1002+149del (n.1002+105_1002+149del)
| gnomAD v4 |
| 21 | g.45990576_45990577insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA | CA2654972560 | COL6A1 | c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972565 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC | CA2654972566 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2818093085 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| |
| 21 | g.45990546_45990547insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC | CA2654972568 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC | CA2654972573 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972571 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC | CA2654972579 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC | CA2654972578 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990532_45990557del | CA1022881597 | COL6A1 | c.1002+110_1002+135del (n.1002+110_1002+135del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881596 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972580 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990531_45990613del | CA2654972576 | COL6A1 | c.1002+109_1003-160del (n.1002+109_1003-160del)
| gnomAD v4 |
| 21 | g.45990529_45990538del | CA1022881605 | COL6A1 | c.1002+107_1002+116del (n.1002+107_1002+116del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC | CA2654972582 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972587 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972589 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990546_45990547insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC | CA2654972594 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990532_45990547del | CA2818093091 | COL6A1 | c.1002+110_1002+125del (n.1002+110_1002+125del)
| |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2591412908 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990534_45990585del | CA2818093093 | COL6A1 | c.1002+112_1002+163del (n.1002+112_1002+163del)
| |
| 21 | g.45990532_45990625delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG | CA2392434276 | COL6A1 | c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG (n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG)
| |
| 21 | g.45990536_45990537del | CA2654972600 | COL6A1 | c.1002+114_1002+115del (n.1002+114_1002+115del)
| gnomAD v4 |
| 21 | g.45990534_45990537del | CA2654972599 | COL6A1 | c.1002+112_1002+115del (n.1002+112_1002+115del)
| gnomAD v4 |
| 21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC | CA2654972602 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC)
| gnomAD v4 |
| 21 | g.45990534_45990559del | CA2654972601 | COL6A1 | c.1002+112_1002+137del (n.1002+112_1002+137del)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA1022881620 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972595 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990547_45990639del | CA1022881622 | COL6A1 | c.1002+125_1003-134del (n.1002+125_1003-134del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990534_45990544del | CA1022881631 | COL6A1 | c.1002+112_1002+122del (n.1002+112_1002+122del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972603 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990535_45990537del | CA2543072481 | COL6A1 | c.1002+113_1002+115del (n.1002+113_1002+115del)
| |
| 21 | g.45990543_45990544insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG | CA2654972605 | COL6A1 | c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG (n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972604 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990536del | CA2818093099 | COL6A1 | c.1002+114del (n.1002+114del)
| |
| 21 | g.45990536T>A | CA2591412912 | COL6A1 | c.1002+114T>A (n.1002+114T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990536T>C | CA1022881642 | COL6A1 | c.1002+114T>C (n.1002+114T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990536T>G | CA1022881648 | COL6A1 | c.1002+114T>G (n.1002+114T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990536T= | CA2392434278 | COL6A1 | c.1002+114T= (n.1002+114T=)
| |
| 21 | g.45990537G>A | CA2654972608 | COL6A1 | c.1002+115G>A (n.1002+115G>A)
| gnomAD v4 |
| 21 | g.45990537G>C | CA1022881653 | COL6A1 | c.1002+115G>C (n.1002+115G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990537G>T | CA2654972609 | COL6A1 | c.1002+115G>T (n.1002+115G>T)
| gnomAD v4 |
| 21 | g.45990538A>C | CA1022881656 | COL6A1 | c.1002+116A>C (n.1002+116A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990538A>G | CA1022881657 | COL6A1 | c.1002+116A>G (n.1002+116A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990538A>T | CA2654972610 | COL6A1 | c.1002+116A>T (n.1002+116A>T)
| dbSNP gnomAD v4 |
| 21 | g.45990539A>C | CA1022881661 | COL6A1 | c.1002+117A>C (n.1002+117A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990539A>G | CA1022881659 | COL6A1 | c.1002+117A>G (n.1002+117A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990539A>T | CA1022881660 | COL6A1 | c.1002+117A>T (n.1002+117A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990545_45990589del | CA2654972611 | COL6A1 | c.1002+123_1002+167del (n.1002+123_1002+167del)
| gnomAD v4 |
| 21 | g.45990539_45990540insCT | CA2818093107 | COL6A1 | c.1002+117_1002+118insCT (n.1002+117_1002+118insCT)
| |
| 21 | g.45990540G>A | CA2654972614 | COL6A1 | c.1002+118G>A (n.1002+118G>A)
| gnomAD v4 |
| 21 | g.45990540G>C | CA2654972612 | COL6A1 | c.1002+118G>C (n.1002+118G>C)
| gnomAD v4 |
| 21 | g.45990540G>T | CA2654972613 | COL6A1 | c.1002+118G>T (n.1002+118G>T)
| gnomAD v4 |
| 21 | g.45990541dup | CA2654972615 | COL6A1 | c.1002+119dup (n.1002+119dup)
| gnomAD v4 |
| 21 | g.45990540_45990551del | CA2818093108 | COL6A1 | c.1002+118_1002+129del (n.1002+118_1002+129del)
| |
| 21 | g.45990541G>A | CA1022881662 | COL6A1 | c.1002+119G>A (n.1002+119G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990541G>C | CA1022881663 | COL6A1 | c.1002+119G>C (n.1002+119G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990541G>T | CA2547217961 | COL6A1 | c.1002+119G>T (n.1002+119G>T)
| gnomAD v4 |
| 21 | g.45990541_45990542insCG | CA2818093109 | COL6A1 | c.1002+119_1002+120insCG (n.1002+119_1002+120insCG)
| |
| 21 | g.45990541_45990542insC | CA2654972616 | COL6A1 | c.1002+119_1002+120insC (n.1002+119_1002+120insC)
| gnomAD v4 |
| 21 | g.45990541_45990542insCTGTC | CA2654972617 | COL6A1 | c.1002+119_1002+120insCTGTC (n.1002+119_1002+120insCTGTC)
| gnomAD v4 |
| 21 | g.45990541_45990542insCTGTCTCTTA | CA2654972618 | COL6A1 | c.1002+119_1002+120insCTGTCTCTTA (n.1002+119_1002+120insCTGTCTCTTA)
| gnomAD v4 |
| 21 | g.45990542del | CA1022881679 | COL6A1 | c.1002+120del (n.1002+120del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990542T>A | CA1022881681 | COL6A1 | c.1002+120T>A (n.1002+120T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990542T>C | CA1022881683 | COL6A1 | c.1002+120T>C (n.1002+120T>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990542T>G | CA1022881685 | COL6A1 | c.1002+120T>G (n.1002+120T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990542T= | CA2392434279 | COL6A1 | c.1002+120T= (n.1002+120T=)
| |
| 21 | g.45990542_45990543insA | CA2654972621 | COL6A1 | c.1002+120_1002+121insA (n.1002+120_1002+121insA)
| gnomAD v4 |
| 21 | g.45990543G>A | CA2654972619 | COL6A1 | c.1002+121G>A (n.1002+121G>A)
| gnomAD v4 |
| 21 | g.45990543G>C | CA2654972620 | COL6A1 | c.1002+121G>C (n.1002+121G>C)
| gnomAD v4 |
| 21 | g.45990543G>T | CA1022881686 | COL6A1 | c.1002+121G>T (n.1002+121G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990543_45990544insTCTCTT | CA2654972622 | COL6A1 | c.1002+121_1002+122insTCTCTT (n.1002+121_1002+122insTCTCTT)
| gnomAD v4 |
| 21 | g.45990544A= | CA2392434280 | COL6A1 | c.1002+122A= (n.1002+122A=)
| |
| 21 | g.45990544A>C | CA2591412918 | COL6A1 | c.1002+122A>C (n.1002+122A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990544A>G | CA321964785 | COL6A1 | c.1002+122A>G (n.1002+122A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990544A>T | CA2654972623 | COL6A1 | c.1002+122A>T (n.1002+122A>T)
| gnomAD v4 |
| 21 | g.45990544_45990545insGC | CA2818093111 | COL6A1 | c.1002+122_1002+123insGC (n.1002+122_1002+123insGC)
| |
| 21 | g.45990545C>A | CA1022881696 | COL6A1 | c.1002+123C>A (n.1002+123C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990545C= | CA2392434283 | COL6A1 | c.1002+123C= (n.1002+123C=)
| |
| 21 | g.45990545C>G | CA1022881694 | COL6A1 | c.1002+123C>G (n.1002+123C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990545C>T | CA1022881693 | COL6A1 | c.1002+123C>T (n.1002+123C>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546del | CA2654972624 | COL6A1 | c.1002+124del (n.1002+124del)
| gnomAD v4 |
| 21 | g.45990545_45990551del | CA2818093110 | COL6A1 | c.1002+123_1002+129del (n.1002+123_1002+129del)
| |
| 21 | g.45990545_45990556delinsCCAGGGGAAGGA | CA2392434282 | COL6A1 | c.1002+123_1002+134delinsCCAGGGGAAGGA (n.1002+123_1002+134delinsCCAGGGGAAGGA)
| |
| 21 | g.45990545_45990566delinsCCAGGGGAAGGACGGGGAGGGA | CA2392434281 | COL6A1 | c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA (n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA)
| |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881700 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990552_45990646del | CA1022881704 | COL6A1 | c.1002+130_1003-127del (n.1002+130_1003-127del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546C>A | CA1022881718 | COL6A1 | c.1002+124C>A (n.1002+124C>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546C= | CA2392434284 | COL6A1 | c.1002+124C= (n.1002+124C=)
| |
| 21 | g.45990546C>G | CA1022881720 | COL6A1 | c.1002+124C>G (n.1002+124C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546C>T | CA2654972625 | COL6A1 | c.1002+124C>T (n.1002+124C>T)
| gnomAD v4 |
| 21 | g.45990546_45990547del | CA1022881725 | COL6A1 | c.1002+124_1002+125del (n.1002+124_1002+125del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547delinsCA | CA2392434285 | COL6A1 | c.1002+124_1002+125delinsCA (n.1002+124_1002+125delinsCA)
| |
| 21 | g.45990546_45990549del | CA1022881708 | COL6A1 | c.1002+124_1002+127del (n.1002+124_1002+127del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990547_45990557del | CA638178948 | COL6A1 | c.1002+125_1002+135del (n.1002+125_1002+135del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990547_45990567del | CA638178947 | COL6A1 | c.1002+125_1002+145del (n.1002+125_1002+145del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990627del | CA1022881711 | COL6A1 | c.1002+124_1003-146del (n.1002+124_1003-146del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990546_45990547insGGGG | CA2654972626 | COL6A1 | c.1002+124_1002+125insGGGG (n.1002+124_1002+125insGGGG)
| gnomAD v4 |
| 21 | g.45990546_45990547insCGGGG | CA1022881732 | COL6A1 | c.1002+124_1002+125insCGGGG (n.1002+124_1002+125insCGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990547del | CA321964797 | COL6A1 | c.1002+125del (n.1002+125del)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45990547A= | CA2392434286 | COL6A1 | c.1002+125A= (n.1002+125A=)
| |
| 21 | g.45990547A>C | CA321964804 | COL6A1 | c.1002+125A>C (n.1002+125A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990547A>G | CA638178950 | COL6A1 | c.1002+125A>G (n.1002+125A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990547A>T | CA2591412925 | COL6A1 | c.1002+125A>T (n.1002+125A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990547_45990556del | CA1022881734 | COL6A1 | c.1002+125_1002+134del (n.1002+125_1002+134del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990547_45990557delinsAGGGGAAGGAC | CA2392434287 | COL6A1 | c.1002+125_1002+135delinsAGGGGAAGGAC (n.1002+125_1002+135delinsAGGGGAAGGAC)
| |
| 21 | g.45990547_45990566del | CA638178949 | COL6A1 | c.1002+125_1002+144del (n.1002+125_1002+144del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990548G>A | CA1022881743 | COL6A1 | c.1002+126G>A (n.1002+126G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990548G>C | CA2654972628 | COL6A1 | c.1002+126G>C (n.1002+126G>C)
| gnomAD v4 |
| 21 | g.45990548G= | CA2392434289 | COL6A1 | c.1002+126G= (n.1002+126G=)
| |
| 21 | g.45990548G>T | CA2499715284 | COL6A1 | c.1002+126G>T (n.1002+126G>T)
| gnomAD v4 |
| 21 | g.45990551del | CA2654972627 | COL6A1 | c.1002+129del (n.1002+129del)
| gnomAD v4 |
| 21 | g.45990550_45990551del | CA2818093115 | COL6A1 | c.1002+128_1002+129del (n.1002+128_1002+129del)
| |
| 21 | g.45990553_45990562dup | CA2392434288 | COL6A1 | c.1002+131_1002+140dup (n.1002+131_1002+140dup)
| dbSNP gnomAD v4 |
| 21 | g.45990553_45990562del | CA1022881758 | COL6A1 | c.1002+131_1002+140del (n.1002+131_1002+140del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2818093116 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| |
| 21 | g.45990548_45990549insAT | CA2654972629 | COL6A1 | c.1002+126_1002+127insAT (n.1002+126_1002+127insAT)
| gnomAD v4 |
| 21 | g.45990548_45990549insATC | CA2654972630 | COL6A1 | c.1002+126_1002+127insATC (n.1002+126_1002+127insATC)
| gnomAD v4 |
| 21 | g.45990549G>A | CA1022881760 | COL6A1 | c.1002+127G>A (n.1002+127G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990549G>C | CA2392434290 | COL6A1 | c.1002+127G>C (n.1002+127G>C)
| dbSNP gnomAD v4 |
| 21 | g.45990549G= | CA2392434291 | COL6A1 | c.1002+127G= (n.1002+127G=)
| |
| 21 | g.45990549G>T | CA1022881761 | COL6A1 | c.1002+127G>T (n.1002+127G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990549_45990550insATC | CA2654972632 | COL6A1 | c.1002+127_1002+128insATC (n.1002+127_1002+128insATC)
| gnomAD v4 |
| 21 | g.45990550G>A | CA2654972633 | COL6A1 | c.1002+128G>A (n.1002+128G>A)
| gnomAD v4 |
| 21 | g.45990550G>C | CA2526343973 | COL6A1 | c.1002+128G>C (n.1002+128G>C)
| gnomAD v4 |
| 21 | g.45990550G>T | CA1022881762 | COL6A1 | c.1002+128G>T (n.1002+128G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990550_45990552del | CA2654972631 | COL6A1 | c.1002+128_1002+130del (n.1002+128_1002+130del)
| gnomAD v4 |
| 21 | g.45990553_45990556del | CA2818093117 | COL6A1 | c.1002+131_1002+134del (n.1002+131_1002+134del)
| |
| 21 | g.45990550_45990551insATGGGGTGGACAGTGT | CA1022881764 | COL6A1 | c.1002+128_1002+129insATGGGGTGGACAGTGT (n.1002+128_1002+129insATGGGGTGGACAGTGT)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990551G>A | CA2654972634 | COL6A1 | c.1002+129G>A (n.1002+129G>A)
| gnomAD v4 |
| 21 | g.45990551G>C | CA2654972635 | COL6A1 | c.1002+129G>C (n.1002+129G>C)
| gnomAD v4 |
| 21 | g.45990551G>T | CA2591412932 | COL6A1 | c.1002+129G>T (n.1002+129G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990552A>C | CA1022881774 | COL6A1 | c.1002+130A>C (n.1002+130A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990552A>G | CA1022881784 | COL6A1 | c.1002+130A>G (n.1002+130A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990552A>T | CA1022881785 | COL6A1 | c.1002+130A>T (n.1002+130A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990552_45990556del | CA2654972636 | COL6A1 | c.1002+130_1002+134del (n.1002+130_1002+134del)
| gnomAD v4 |
| 21 | g.45990552_45990557del | CA1022881772 | COL6A1 | c.1002+130_1002+135del (n.1002+130_1002+135del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990552_45990553insG | CA1022881789 | COL6A1 | c.1002+130_1002+131insG (n.1002+130_1002+131insG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990553A= | CA2392434293 | COL6A1 | c.1002+131A= (n.1002+131A=)
| |
| 21 | g.45990553A>C | CA1022881791 | COL6A1 | c.1002+131A>C (n.1002+131A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990553A>G | CA638178951 | COL6A1 | c.1002+131A>G (n.1002+131A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990553A>T | CA749831662 | COL6A1 | c.1002+131A>T (n.1002+131A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990553_45990563delinsAGGACGGGGAG | CA2392434292 | COL6A1 | c.1002+131_1002+141delinsAGGACGGGGAG (n.1002+131_1002+141delinsAGGACGGGGAG)
| |
| 21 | g.45990554G>A | CA1022881802 | COL6A1 | c.1002+132G>A (n.1002+132G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990554G= | CA2392434294 | COL6A1 | c.1002+132G= (n.1002+132G=)
| |
| 21 | g.45990554G>T | CA2654972638 | COL6A1 | c.1002+132G>T (n.1002+132G>T)
| gnomAD v4 |
| 21 | g.45990554_45990555insATCG | CA2654972639 | COL6A1 | c.1002+132_1002+133insATCG (n.1002+132_1002+133insATCG)
| gnomAD v4 |
| 21 | g.45990554_45990555del | CA2818093123 | COL6A1 | c.1002+132_1002+133del (n.1002+132_1002+133del)
| |
| 21 | g.45990567_45990576dup | CA2654972637 | COL6A1 | c.1002+145_1002+154dup (n.1002+145_1002+154dup)
| gnomAD v4 |
| 21 | g.45990567_45990576del | CA638178952 | COL6A1 | c.1002+145_1002+154del (n.1002+145_1002+154del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972640 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990554_45990555insAA | CA2654972641 | COL6A1 | c.1002+132_1002+133insAA (n.1002+132_1002+133insAA)
| gnomAD v4 |
| 21 | g.45990555G>A | CA2654972644 | COL6A1 | c.1002+133G>A (n.1002+133G>A)
| gnomAD v4 |
| 21 | g.45990555G>C | CA2654972645 | COL6A1 | c.1002+133G>C (n.1002+133G>C)
| gnomAD v4 |
| 21 | g.45990555G>T | CA2654972646 | COL6A1 | c.1002+133G>T (n.1002+133G>T)
| gnomAD v4 |
| 21 | g.45990555_45990556insTG | CA2654972643 | COL6A1 | c.1002+133_1002+134insTG (n.1002+133_1002+134insTG)
| gnomAD v4 |
| 21 | g.45990555_45990556insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG | CA2654972642 | COL6A1 | c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG (n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG)
| gnomAD v4 |
| 21 | g.45990556A= | CA2392434295 | COL6A1 | c.1002+134A= (n.1002+134A=)
| |
| 21 | g.45990556A>C | CA1022881805 | COL6A1 | c.1002+134A>C (n.1002+134A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990556A>G | CA1022881808 | COL6A1 | c.1002+134A>G (n.1002+134A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990556A>T | CA2591412936 | COL6A1 | c.1002+134A>T (n.1002+134A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990556_45990557insT | CA2654972647 | COL6A1 | c.1002+134_1002+135insT (n.1002+134_1002+135insT)
| gnomAD v4 |
| 21 | g.45990557C>A | CA1022881810 | COL6A1 | c.1002+135C>A (n.1002+135C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990557C= | CA2392434296 | COL6A1 | c.1002+135C= (n.1002+135C=)
| |
| 21 | g.45990557C>G | CA1022881812 | COL6A1 | c.1002+135C>G (n.1002+135C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990557C>T | CA749831671 | COL6A1 | c.1002+135C>T (n.1002+135C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990558G>A | CA638178953 | COL6A1 | c.1002+136G>A (n.1002+136G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990558G>C | CA2654972651 | COL6A1 | c.1002+136G>C (n.1002+136G>C)
| gnomAD v4 |
| 21 | g.45990558G= | CA2392434297 | COL6A1 | c.1002+136G= (n.1002+136G=)
| |
| 21 | g.45990558G>T | CA2654972650 | COL6A1 | c.1002+136G>T (n.1002+136G>T)
| gnomAD v4 |
| 21 | g.45990559_45990561del | CA2818093127 | COL6A1 | c.1002+137_1002+139del (n.1002+137_1002+139del)
| |
| 21 | g.45990561_45990571del | CA2654972652 | COL6A1 | c.1002+139_1002+149del (n.1002+139_1002+149del)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972648 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972649 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
| 21 | g.45990559G>A | CA1022881824 | COL6A1 | c.1002+137G>A (n.1002+137G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990559G>C | CA2654972654 | COL6A1 | c.1002+137G>C (n.1002+137G>C)
| gnomAD v4 |
| 21 | g.45990559G= | CA2392434298 | COL6A1 | c.1002+137G= (n.1002+137G=)
| |
| 21 | g.45990559G>T | CA1022881827 | COL6A1 | c.1002+137G>T (n.1002+137G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990559_45990596del | CA1022881821 | COL6A1 | c.1002+137_1002+174del (n.1002+137_1002+174del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990565_45990612del | CA2654972653 | COL6A1 | c.1002+143_1003-161del (n.1002+143_1003-161del)
| gnomAD v4 |
| 21 | g.45990559_45990560insA | CA2654972655 | COL6A1 | c.1002+137_1002+138insA (n.1002+137_1002+138insA)
| gnomAD v4 |
| 21 | g.45990559_45990560insATC | CA2654972656 | COL6A1 | c.1002+137_1002+138insATC (n.1002+137_1002+138insATC)
| gnomAD v4 |
| 21 | g.45990559_45990560insCGT | CA1022881829 | COL6A1 | c.1002+137_1002+138insCGT (n.1002+137_1002+138insCGT)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990559_45990560insTCTC | CA2818093129 | COL6A1 | c.1002+137_1002+138insTCTC (n.1002+137_1002+138insTCTC)
| |
| 21 | g.45990560G>A | CA2654972657 | COL6A1 | c.1002+138G>A (n.1002+138G>A)
| gnomAD v4 |
| 21 | g.45990560G>C | CA1022881832 | COL6A1 | c.1002+138G>C (n.1002+138G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990560G>T | CA2654972658 | COL6A1 | c.1002+138G>T (n.1002+138G>T)
| gnomAD v4 |
| 21 | g.45990568_45990605dup | CA1022881830 | COL6A1 | c.1002+146_1003-168dup (n.1002+146_1003-168dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990568_45990605del | CA1022881831 | COL6A1 | c.1002+146_1003-168del (n.1002+146_1003-168del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990561G>A | CA1022881833 | COL6A1 | c.1002+139G>A (n.1002+139G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990561G>C | CA2654972659 | COL6A1 | c.1002+139G>C (n.1002+139G>C)
| gnomAD v4 |
| 21 | g.45990561G= | CA2392434299 | COL6A1 | c.1002+139G= (n.1002+139G=)
| |
| 21 | g.45990561G>T | CA2392434300 | COL6A1 | c.1002+139G>T (n.1002+139G>T)
| dbSNP gnomAD v4 |
| 21 | g.45990562del | CA1022881834 | COL6A1 | c.1002+140del (n.1002+140del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990562A= | CA2392434301 | COL6A1 | c.1002+140A= (n.1002+140A=)
| |
| 21 | g.45990562A>C | CA1022881835 | COL6A1 | c.1002+140A>C (n.1002+140A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990562A>G | CA1022881837 | COL6A1 | c.1002+140A>G (n.1002+140A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990562A>T | CA2654972660 | COL6A1 | c.1002+140A>T (n.1002+140A>T)
| gnomAD v4 |
| 21 | g.45990562_45990563insTC | CA2818093132 | COL6A1 | c.1002+140_1002+141insTC (n.1002+140_1002+141insTC)
| |
| 21 | g.45990563G>A | CA321964806 | COL6A1 | c.1002+141G>A (n.1002+141G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990563G= | CA2392434302 | COL6A1 | c.1002+141G= (n.1002+141G=)
| |
| 21 | g.45990563G>T | CA1022881842 | COL6A1 | c.1002+141G>T (n.1002+141G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990563_45990565del | CA2818093133 | COL6A1 | c.1002+141_1002+143del (n.1002+141_1002+143del)
| |
| 21 | g.45990564_45990565del | CA2654972661 | COL6A1 | c.1002+142_1002+143del (n.1002+142_1002+143del)
| gnomAD v4 |
| 21 | g.45990564_45990583del | CA2654972662 | COL6A1 | c.1002+142_1002+161del (n.1002+142_1002+161del)
| gnomAD v4 |
| 21 | g.45990564G>A | CA2654972666 | COL6A1 | c.1002+142G>A (n.1002+142G>A)
| gnomAD v4 |
| 21 | g.45990564G>T | CA2654972663 | COL6A1 | c.1002+142G>T (n.1002+142G>T)
| gnomAD v4 |
| 21 | g.45990566_45990567insTGGGGAGGGATGGGGTGGA | CA2591412946 | COL6A1 | c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA (n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990613del | CA2654972665 | COL6A1 | c.1002+145_1003-160del (n.1002+145_1003-160del)
| gnomAD v4 |
| 21 | g.45990570_45990626del | CA2654972664 | COL6A1 | c.1002+148_1003-147del (n.1002+148_1003-147del)
| gnomAD v4 |
| 21 | g.45990564_45990565insT | CA1022881848 | COL6A1 | c.1002+142_1002+143insT (n.1002+142_1002+143insT)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990564_45990565insAATGGGGCGA | CA2654972667 | COL6A1 | c.1002+142_1002+143insAATGGGGCGA (n.1002+142_1002+143insAATGGGGCGA)
| gnomAD v4 |
| 21 | g.45990565G>A | CA638178954 | COL6A1 | c.1002+143G>A (n.1002+143G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990565G= | CA2392434303 | COL6A1 | c.1002+143G= (n.1002+143G=)
| |
| 21 | g.45990565G>T | CA1022881849 | COL6A1 | c.1002+143G>T (n.1002+143G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990566_45990585del | CA2654972668 | COL6A1 | c.1002+144_1002+163del (n.1002+144_1002+163del)
| gnomAD v4 |
| 21 | g.45990566A= | CA2392434304 | COL6A1 | c.1002+144A= (n.1002+144A=)
| |
| 21 | g.45990566A>C | CA1022881851 | COL6A1 | c.1002+144A>C (n.1002+144A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990566A>G | CA1022881852 | COL6A1 | c.1002+144A>G (n.1002+144A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990566A>T | CA1022881853 | COL6A1 | c.1002+144A>T (n.1002+144A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990567C>A | CA2654972669 | COL6A1 | c.1002+145C>A (n.1002+145C>A)
| gnomAD v4 |
| 21 | g.45990567C= | CA2392434305 | COL6A1 | c.1002+145C= (n.1002+145C=)
| |
| 21 | g.45990567C>G | CA749831682 | COL6A1 | c.1002+145C>G (n.1002+145C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990567C>T | CA15984378 | COL6A1 | c.1002+145C>T (n.1002+145C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990568insCC | CA1022881856 | COL6A1 | c.1002+145_1002+146insCC (n.1002+145_1002+146insCC)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990574del | CA2654972671 | COL6A1 | c.1002+145_1002+152del (n.1002+145_1002+152del)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG | CA1022881855 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990586del | CA2654972670 | COL6A1 | c.1002+145_1002+164del (n.1002+145_1002+164del)
| gnomAD v4 |
| 21 | g.45990567_45990614del | CA1022881854 | COL6A1 | c.1002+145_1003-159del (n.1002+145_1003-159del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990568insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT | CA2591412947 | COL6A1 | c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990567_45990568insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT | CA1022881860 | COL6A1 | c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990568G>A | CA638178956 | COL6A1 | c.1002+146G>A (n.1002+146G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990568G>C | CA2392434307 | COL6A1 | c.1002+146G>C (n.1002+146G>C)
| dbSNP gnomAD v4 |
| 21 | g.45990568G= | CA2392434306 | COL6A1 | c.1002+146G= (n.1002+146G=)
| |
| 21 | g.45990568G>T | CA2654972672 | COL6A1 | c.1002+146G>T (n.1002+146G>T)
| gnomAD v4 |
| 21 | g.45990571del | CA2654972677 | COL6A1 | c.1002+149del (n.1002+149del)
| gnomAD v4 |
| 21 | g.45990570_45990571del | CA2654972676 | COL6A1 | c.1002+148_1002+149del (n.1002+148_1002+149del)
| gnomAD v4 |
| 21 | g.45990568_45990576del | CA2654972675 | COL6A1 | c.1002+146_1002+154del (n.1002+146_1002+154del)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGATGGGG | CA2654972679 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGATGGGG)
| gnomAD v4 |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG | CA2654972678 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG)
| gnomAD v4 |
| 21 | g.45990572_45990581dup | CA638178955 | COL6A1 | c.1002+150_1002+159dup (n.1002+150_1002+159dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990572_45990581del | CA2654972674 | COL6A1 | c.1002+150_1002+159del (n.1002+150_1002+159del)
| gnomAD v4 |
| 21 | g.45990583_45990584insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG | CA2654972673 | COL6A1 | c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG (n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG)
| gnomAD v4 |
| 21 | g.45990569G>A | CA638178957 | COL6A1 | c.1002+147G>A (n.1002+147G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990569G>C | CA2654972681 | COL6A1 | c.1002+147G>C (n.1002+147G>C)
| gnomAD v4 |
| 21 | g.45990569G= | CA2392434308 | COL6A1 | c.1002+147G= (n.1002+147G=)
| |
| 21 | g.45990569G>T | CA2654972682 | COL6A1 | c.1002+147G>T (n.1002+147G>T)
| gnomAD v4 |
| 21 | g.45990575_45990612del | CA2654972680 | COL6A1 | c.1002+153_1003-161del (n.1002+153_1003-161del)
| gnomAD v4 |
| 21 | g.45990570G>A | CA1022881863 | COL6A1 | c.1002+148G>A (n.1002+148G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990570G>T | CA2654972683 | COL6A1 | c.1002+148G>T (n.1002+148G>T)
| gnomAD v4 |
| 21 | g.45990571G>A | CA2654972684 | COL6A1 | c.1002+149G>A (n.1002+149G>A)
| gnomAD v4 |
| 21 | g.45990571G>T | CA2654972685 | COL6A1 | c.1002+149G>T (n.1002+149G>T)
| gnomAD v4 |
| 21 | g.45990572A= | CA2392434309 | COL6A1 | c.1002+150A= (n.1002+150A=)
| |
| 21 | g.45990572A>C | CA638178958 | COL6A1 | c.1002+150A>C (n.1002+150A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990572A>G | CA749831697 | COL6A1 | c.1002+150A>G (n.1002+150A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990572A>T | CA1022881871 | COL6A1 | c.1002+150A>T (n.1002+150A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990573G>A | CA2654972687 | COL6A1 | c.1002+151G>A (n.1002+151G>A)
| gnomAD v4 |
| 21 | g.45990573G>C | CA2818093134 | COL6A1 | c.1002+151G>C (n.1002+151G>C)
| |
| 21 | g.45990573G>T | CA2654972688 | COL6A1 | c.1002+151G>T (n.1002+151G>T)
| gnomAD v4 |
| 21 | g.45990574_45990619del | CA2654972686 | COL6A1 | c.1002+152_1003-154del (n.1002+152_1003-154del)
| gnomAD v4 |
| 21 | g.45990574G>A | CA638178959 | COL6A1 | c.1002+152G>A (n.1002+152G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990574G= | CA2392434310 | COL6A1 | c.1002+152G= (n.1002+152G=)
| |
| 21 | g.45990574G>T | CA2654972689 | COL6A1 | c.1002+152G>T (n.1002+152G>T)
| gnomAD v4 |
| 21 | g.45990575G>A | CA638178960 | COL6A1 | c.1002+153G>A (n.1002+153G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990575G>C | CA1022881872 | COL6A1 | c.1002+153G>C (n.1002+153G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990575G= | CA2392434311 | COL6A1 | c.1002+153G= (n.1002+153G=)
| |
| 21 | g.45990575G>T | CA749831708 | COL6A1 | c.1002+153G>T (n.1002+153G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990576A>C | CA1022881874 | COL6A1 | c.1002+154A>C (n.1002+154A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990576A>G | CA1022881875 | COL6A1 | c.1002+154A>G (n.1002+154A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990577T>A | CA1022881877 | COL6A1 | c.1002+155T>A (n.1002+155T>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990577T>G | CA1022881876 | COL6A1 | c.1002+155T>G (n.1002+155T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990577T= | CA2392434312 | COL6A1 | c.1002+155T= (n.1002+155T=)
| |
| 21 | g.45990579G>A | CA2392434314 | COL6A1 | c.1002+157G>A (n.1002+157G>A)
| dbSNP |
| 21 | g.45990579G= | CA2392434313 | COL6A1 | c.1002+157G= (n.1002+157G=)
| |
| 21 | g.45990579G>T | CA321964811 | COL6A1 | c.1002+157G>T (n.1002+157G>T)
| dbSNP |
| 21 | g.45990580G>A | CA2818093135 | COL6A1 | c.1002+158G>A (n.1002+158G>A)
| |
| 21 | g.45990580G>C | CA1022881884 | COL6A1 | c.1002+158G>C (n.1002+158G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990580G= | CA2392434315 | COL6A1 | c.1002+158G= (n.1002+158G=)
| |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG | CA2832399486 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG)
| |
| 21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG | CA1022881879 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990581_45990583del | CA1022881882 | COL6A1 | c.1002+159_1002+161del (n.1002+159_1002+161del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990582_45990599del | CA1022881883 | COL6A1 | c.1002+160_1003-174del (n.1002+160_1003-174del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990581G>A | CA321964820 | COL6A1 | c.1002+159G>A (n.1002+159G>A)
| dbSNP |
| 21 | g.45990581G= | CA2392434316 | COL6A1 | c.1002+159G= (n.1002+159G=)
| |
| 21 | g.45990581G>T | CA638178961 | COL6A1 | c.1002+159G>T (n.1002+159G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990582T>A | CA1022881889 | COL6A1 | c.1002+160T>A (n.1002+160T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990582T>C | CA321964822 | COL6A1 | c.1002+160T>C (n.1002+160T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990582T>G | CA749831724 | COL6A1 | c.1002+160T>G (n.1002+160T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990582T= | CA2392434317 | COL6A1 | c.1002+160T= (n.1002+160T=)
| |
| 21 | g.45990582_45990584del | CA1022881888 | COL6A1 | c.1002+160_1002+162del (n.1002+160_1002+162del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990583G>A | CA321964826 | COL6A1 | c.1002+161G>A (n.1002+161G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990583G= | CA2392434318 | COL6A1 | c.1002+161G= (n.1002+161G=)
| |
| 21 | g.45990584_45990602del | CA1022881892 | COL6A1 | c.1002+162_1003-171del (n.1002+162_1003-171del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990584A= | CA2392434320 | COL6A1 | c.1002+162A= (n.1002+162A=)
| |
| 21 | g.45990584A>C | CA1022881895 | COL6A1 | c.1002+162A>C (n.1002+162A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990584A>G | CA1022881894 | COL6A1 | c.1002+162A>G (n.1002+162A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990584_45990587delinsAGGT | CA2392434319 | COL6A1 | c.1002+162_1002+165delinsAGGT (n.1002+162_1002+165delinsAGGT)
| |
| 21 | g.45990585G>A | CA2392434321 | COL6A1 | c.1002+163G>A (n.1002+163G>A)
| dbSNP |
| 21 | g.45990585G>C | CA749831734 | COL6A1 | c.1002+163G>C (n.1002+163G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990585G= | CA2392434322 | COL6A1 | c.1002+163G= (n.1002+163G=)
| |
| 21 | g.45990585_45990586insATG | CA1022881898 | COL6A1 | c.1002+163_1002+164insATG (n.1002+163_1002+164insATG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990586_45990588del | CA638178962 | COL6A1 | c.1002+164_1002+166del (n.1002+164_1002+166del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990586_45990599del | CA1022881900 | COL6A1 | c.1002+164_1003-174del (n.1002+164_1003-174del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990585_45990586insATGGGGAGGGACGGA | CA2741701882 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGA (n.1002+163_1002+164insATGGGGAGGGACGGA)
| |
| 21 | g.45990586G>A | CA321964832 | COL6A1 | c.1002+164G>A (n.1002+164G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990586G= | CA2392434323 | COL6A1 | c.1002+164G= (n.1002+164G=)
| |
| 21 | g.45990586_45990596del | CA1022881901 | COL6A1 | c.1002+164_1002+174del (n.1002+164_1002+174del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990587T>A | CA1022881903 | COL6A1 | c.1002+165T>A (n.1002+165T>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990587T>G | CA657675845 | COL6A1 | c.1002+165T>G (n.1002+165T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990587T= | CA2392434324 | COL6A1 | c.1002+165T= (n.1002+165T=)
| |
| 21 | g.45990588_45990589insGGG | CA1022881904 | COL6A1 | c.1002+166_1002+167insGGG (n.1002+166_1002+167insGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990588_45990593delinsGATCCC | CA2392434327 | COL6A1 | c.1002+166_1002+171delinsGATCCC (n.1002+166_1002+171delinsGATCCC)
| |
| 21 | g.45990588_45990596delinsGATCCCGGC | CA2392434325 | COL6A1 | c.1002+166_1002+174delinsGATCCCGGC (n.1002+166_1002+174delinsGATCCCGGC)
| |
| 21 | g.45990588_45990600delinsGATCCCGGCAGGA | CA2392434326 | COL6A1 | c.1002+166_1003-173delinsGATCCCGGCAGGA (n.1002+166_1003-173delinsGATCCCGGCAGGA)
| |
| 21 | g.45990589A= | CA2392434329 | COL6A1 | c.1002+167A= (n.1002+167A=)
| |
| 21 | g.45990589A>G | CA1022881907 | COL6A1 | c.1002+167A>G (n.1002+167A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990589A>T | CA2591412962 | COL6A1 | c.1002+167A>T (n.1002+167A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990589_45990592del | CA1022881905 | COL6A1 | c.1002+167_1002+170del (n.1002+167_1002+170del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990589_45990593del | CA638178964 | COL6A1 | c.1002+167_1002+171del (n.1002+167_1002+171del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990590_45990597del | CA2392434328 | COL6A1 | c.1002+168_1003-176del (n.1002+168_1003-176del)
| dbSNP |
| 21 | g.45990589_45990600del | CA638178963 | COL6A1 | c.1002+167_1003-173del (n.1002+167_1003-173del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990589_45990615del | CA1022881906 | COL6A1 | c.1002+167_1003-158del (n.1002+167_1003-158del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990590T>G | CA1022881911 | COL6A1 | c.1002+168T>G (n.1002+168T>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990590_45990592del | CA1022881909 | COL6A1 | c.1002+168_1002+170del (n.1002+168_1002+170del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990590_45990593delinsTCCC | CA2392434330 | COL6A1 | c.1002+168_1002+171delinsTCCC (n.1002+168_1002+171delinsTCCC)
| |
| 21 | g.45990591C= | CA2392434332 | COL6A1 | c.1002+169C= (n.1002+169C=)
| |
| 21 | g.45990591C>G | CA1022881913 | COL6A1 | c.1002+169C>G (n.1002+169C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990591C>T | CA2392434331 | COL6A1 | c.1002+169C>T (n.1002+169C>T)
| dbSNP |
| 21 | g.45990591_45990593del | CA638178965 | COL6A1 | c.1002+169_1002+171del (n.1002+169_1002+171del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990592C>A | CA2591412964 | COL6A1 | c.1002+170C>A (n.1002+170C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990593C= | CA2392434333 | COL6A1 | c.1002+171C= (n.1002+171C=)
| |
| 21 | g.45990593C>G | CA1022881915 | COL6A1 | c.1002+171C>G (n.1002+171C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990593C>T | CA321964836 | COL6A1 | c.1002+171C>T (n.1002+171C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990594G>A | CA512713694 | COL6A1 | c.1002+172G>A (n.1002+172G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990594G= | CA2392434334 | COL6A1 | c.1002+172G= (n.1002+172G=)
| |
| 21 | g.45990595G>A | CA2737649729 | COL6A1 | c.1002+173G>A (n.1002+173G>A)
| dbSNP |
| 21 | g.45990595_45990597delinsGCA | CA2392434335 | COL6A1 | c.1002+173_1003-176delinsGCA (n.1002+173_1003-176delinsGCA)
| |
| 21 | g.45990596_45990598del | CA1022881917 | COL6A1 | c.1002+174_1003-175del (n.1002+174_1003-175del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990596C= | CA2392434336 | COL6A1 | c.1002+174C= (n.1002+174C=)
| |
| 21 | g.45990596C>G | CA638178967 | COL6A1 | c.1002+174C>G (n.1002+174C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990596C>T | CA2818093138 | COL6A1 | c.1002+174C>T (n.1002+174C>T)
| |
| 21 | g.45990596_45990597del | CA638178966 | COL6A1 | c.1002+174_1003-176del (n.1002+174_1003-176del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990597A= | CA2392434337 | COL6A1 | c.1003-176A= (n.1003-176A=)
| |
| 21 | g.45990597A>C | CA749831762 | COL6A1 | c.1003-176A>C (n.1003-176A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990597A>G | CA2392434338 | COL6A1 | c.1003-176A>G (n.1003-176A>G)
| dbSNP |
| 21 | g.45990597A>T | CA2392434339 | COL6A1 | c.1003-176A>T (n.1003-176A>T)
| dbSNP |
| 21 | g.45990599G>A | CA2392434341 | COL6A1 | c.1003-174G>A (n.1003-174G>A)
| dbSNP |
| 21 | g.45990599G= | CA2392434340 | COL6A1 | c.1003-174G= (n.1003-174G=)
| |
| 21 | g.45990600del | CA1022881922 | COL6A1 | c.1003-173del (n.1003-173del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990600A>G | CA1022881923 | COL6A1 | c.1003-173A>G (n.1003-173A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990600_45990601delinsAG | CA2392434342 | COL6A1 | c.1003-173_1003-172delinsAG (n.1003-173_1003-172delinsAG)
| |
| 21 | g.45990601G>C | CA2818093139 | COL6A1 | c.1003-172G>C (n.1003-172G>C)
| |
| 21 | g.45990603del | CA2392434343 | COL6A1 | c.1003-170del (n.1003-170del)
| dbSNP |
| 21 | g.45990602G>A | CA321964839 | COL6A1 | c.1003-171G>A (n.1003-171G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990602G= | CA2392434344 | COL6A1 | c.1003-171G= (n.1003-171G=)
| |
| 21 | g.45990603G>A | CA1022881927 | COL6A1 | c.1003-170G>A (n.1003-170G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990604A>C | CA1022881942 | COL6A1 | c.1003-169A>C (n.1003-169A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990604A>G | CA1022881930 | COL6A1 | c.1003-169A>G (n.1003-169A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990604A>T | CA1022881932 | COL6A1 | c.1003-169A>T (n.1003-169A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990605_45990606del | CA1022881935 | COL6A1 | c.1003-168_1003-167del (n.1003-168_1003-167del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990604_45990615del | CA1022881940 | COL6A1 | c.1003-169_1003-158del (n.1003-169_1003-158del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990605C= | CA2392434346 | COL6A1 | c.1003-168C= (n.1003-168C=)
| |
| 21 | g.45990605C>G | CA1022881944 | COL6A1 | c.1003-168C>G (n.1003-168C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990605C>T | CA2392434345 | COL6A1 | c.1003-168C>T (n.1003-168C>T)
| dbSNP |
| 21 | g.45990605_45990614del | CA2516243993 | COL6A1 | c.1003-168_1003-159del (n.1003-168_1003-159del)
| |
| 21 | g.45990605_45990606insGG | CA1022881947 | COL6A1 | c.1003-168_1003-167insGG (n.1003-168_1003-167insGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990606A= | CA2392434347 | COL6A1 | c.1003-167A= (n.1003-167A=)
| |
| 21 | g.45990606A>C | CA2502596452 | COL6A1 | c.1003-167A>C (n.1003-167A>C)
| |
| 21 | g.45990606A>G | CA638178969 | COL6A1 | c.1003-167A>G (n.1003-167A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990606_45990607del | CA638178968 | COL6A1 | c.1003-167_1003-166del (n.1003-167_1003-166del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990607G>A | CA2818093141 | COL6A1 | c.1003-166G>A (n.1003-166G>A)
| |
| 21 | g.45990608_45990626del | CA1022881951 | COL6A1 | c.1003-165_1003-147del (n.1003-165_1003-147del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990607_45990608insT | CA1022881952 | COL6A1 | c.1003-166_1003-165insT (n.1003-166_1003-165insT)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990608G>A | CA1022881954 | COL6A1 | c.1003-165G>A (n.1003-165G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990609G= | CA2392434348 | COL6A1 | c.1003-164G= (n.1003-164G=)
| |
| 21 | g.45990609G>T | CA749831777 | COL6A1 | c.1003-164G>T (n.1003-164G>T)
| dbSNP |
| 21 | g.45990610A= | CA2392434349 | COL6A1 | c.1003-163A= (n.1003-163A=)
| |
| 21 | g.45990610A>C | CA2526774589 | COL6A1 | c.1003-163A>C (n.1003-163A>C)
| |
| 21 | g.45990610A>G | CA1022881955 | COL6A1 | c.1003-163A>G (n.1003-163A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990610_45990611insCGGCGTGAAGGTGACCCGG | CA1022881956 | COL6A1 | c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG (n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990611_45990612dup | CA1022881958 | COL6A1 | c.1003-162_1003-161dup (n.1003-162_1003-161dup)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990612_45990619del | CA1022881959 | COL6A1 | c.1003-161_1003-154del (n.1003-161_1003-154del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990613A= | CA2392434350 | COL6A1 | c.1003-160A= (n.1003-160A=)
| |
| 21 | g.45990613A>C | CA2570264184 | COL6A1 | c.1003-160A>C (n.1003-160A>C)
| |
| 21 | g.45990613A>G | CA1022881962 | COL6A1 | c.1003-160A>G (n.1003-160A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990613_45990620del | CA1022881961 | COL6A1 | c.1003-160_1003-153del (n.1003-160_1003-153del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990614G>A | CA2392434352 | COL6A1 | c.1003-159G>A (n.1003-159G>A)
| dbSNP |
| 21 | g.45990614G>C | CA1022881964 | COL6A1 | c.1003-159G>C (n.1003-159G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990614G= | CA2392434351 | COL6A1 | c.1003-159G= (n.1003-159G=)
| |
| 21 | g.45990614_45990615insGGA | CA1022881967 | COL6A1 | c.1003-159_1003-158insGGA (n.1003-159_1003-158insGGA)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990615T>C | CA1022881972 | COL6A1 | c.1003-158T>C (n.1003-158T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990615T>G | CA1022881973 | COL6A1 | c.1003-158T>G (n.1003-158T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990615T= | CA2392434353 | COL6A1 | c.1003-158T= (n.1003-158T=)
| |
| 21 | g.45990616G>A | CA749831779 | COL6A1 | c.1003-157G>A (n.1003-157G>A)
| dbSNP |
| 21 | g.45990616G>C | CA2392434355 | COL6A1 | c.1003-157G>C (n.1003-157G>C)
| dbSNP |
| 21 | g.45990616G= | CA2392434354 | COL6A1 | c.1003-157G= (n.1003-157G=)
| |
| 21 | g.45990618G>A | CA638178970 | COL6A1 | c.1003-155G>A (n.1003-155G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990618G= | CA2392434356 | COL6A1 | c.1003-155G= (n.1003-155G=)
| |
| 21 | g.45990618G>T | CA2392434357 | COL6A1 | c.1003-155G>T (n.1003-155G>T)
| dbSNP |
| 21 | g.45990619G>A | CA1022881976 | COL6A1 | c.1003-154G>A (n.1003-154G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990619G= | CA2392434358 | COL6A1 | c.1003-154G= (n.1003-154G=)
| |
| 21 | g.45990620del | CA1022881978 | COL6A1 | c.1003-153del (n.1003-153del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990620T>G | CA1022881979 | COL6A1 | c.1003-153T>G (n.1003-153T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990620T= | CA2392434359 | COL6A1 | c.1003-153T= (n.1003-153T=)
| |
| 21 | g.45990621G>A | CA2654972690 | COL6A1 | c.1003-152G>A (n.1003-152G>A)
| gnomAD v4 |
| 21 | g.45990622G>A | CA321964842 | COL6A1 | c.1003-151G>A (n.1003-151G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990622G= | CA2392434360 | COL6A1 | c.1003-151G= (n.1003-151G=)
| |
| 21 | g.45990622G>T | CA2654972691 | COL6A1 | c.1003-151G>T (n.1003-151G>T)
| gnomAD v4 |
| 21 | g.45990623A>C | CA1022881981 | COL6A1 | c.1003-150A>C (n.1003-150A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990623A>G | CA1022881982 | COL6A1 | c.1003-150A>G (n.1003-150A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990624C>A | CA2654972692 | COL6A1 | c.1003-149C>A (n.1003-149C>A)
| gnomAD v4 |
| 21 | g.45990624C= | CA2392434361 | COL6A1 | c.1003-149C= (n.1003-149C=)
| |
| 21 | g.45990624C>G | CA1022881985 | COL6A1 | c.1003-149C>G (n.1003-149C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990624C>T | CA321964843 | COL6A1 | c.1003-149C>T (n.1003-149C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990625G>A | CA321964844 | COL6A1 | c.1003-148G>A (n.1003-148G>A)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45990625G= | CA2392434362 | COL6A1 | c.1003-148G= (n.1003-148G=)
| |
| 21 | g.45990625G>T | CA321964845 | COL6A1 | c.1003-148G>T (n.1003-148G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990626G>A | CA2654972693 | COL6A1 | c.1003-147G>A (n.1003-147G>A)
| gnomAD v4 |
| 21 | g.45990626G>T | CA2654972694 | COL6A1 | c.1003-147G>T (n.1003-147G>T)
| gnomAD v4 |
| 21 | g.45990627T>A | CA1022881989 | COL6A1 | c.1003-146T>A (n.1003-146T>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990627T>C | CA638178971 | COL6A1 | c.1003-146T>C (n.1003-146T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45990627T>G | CA1022881990 | COL6A1 | c.1003-146T>G (n.1003-146T>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990627T= | CA2392434363 | COL6A1 | c.1003-146T= (n.1003-146T=)
| |
| 21 | g.45990628G>A | CA2654972695 | COL6A1 | c.1003-145G>A (n.1003-145G>A)
| gnomAD v4 |
| 21 | g.45990628G>T | CA2654972696 | COL6A1 | c.1003-145G>T (n.1003-145G>T)
| gnomAD v4 |
| 21 | g.45990629T>G | CA1022881991 | COL6A1 | c.1003-144T>G (n.1003-144T>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45990630G>A | CA2654972697 | COL6A1 | c.1003-143G>A (n.1003-143G>A)
| gnomAD v4 |
| 21 | g.45990630G>T | CA2654972698 | COL6A1 | c.1003-143G>T (n.1003-143G>T)
| gnomAD v4 |
| 21 | g.45990632A= | CA2392434364 | COL6A1 | c.1003-141A= (n.1003-141A=)
| |
| 21 | g.45990632A>C | CA2654972699 | COL6A1 | c.1003-141A>C (n.1003-141A>C)
| gnomAD v4 |
| 21 | g.45990632A>G | CA749831796 | COL6A1 | c.1003-141A>G (n.1003-141A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990633G>A | CA2654972700 | COL6A1 | c.1003-140G>A (n.1003-140G>A)
| gnomAD v4 |
| 21 | g.45990634G>A | CA2654972701 | COL6A1 | c.1003-139G>A (n.1003-139G>A)
| gnomAD v4 |
| 21 | g.45990634G>T | CA2654972702 | COL6A1 | c.1003-139G>T (n.1003-139G>T)
| gnomAD v4 |
| 21 | g.45990635T>C | CA2654972703 | COL6A1 | c.1003-138T>C (n.1003-138T>C)
| gnomAD v4 |
| 21 | g.45990635T>G | CA1022881992 | COL6A1 | c.1003-138T>G (n.1003-138T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990635T= | CA2392434365 | COL6A1 | c.1003-138T= (n.1003-138T=)
| |
| 21 | g.45990636G>T | CA2654972704 | COL6A1 | c.1003-137G>T (n.1003-137G>T)
| gnomAD v4 |
