| 21 | g.45987508_45988380del | CA2580098894 | COL6A1 | c.748_805-704del
| ClinVar |
| 21 | g.45987670T>C | CA2654957043 | COL6A1 | c.804+16T>C (n.804+16T>C)
| gnomAD v4 |
| 21 | g.45987671del | CA2654957044 | COL6A1 | c.804+17del (n.804+17del)
| gnomAD v4 |
| 21 | g.45987671G>A | CA2654957045 | COL6A1 | c.804+17G>A (n.804+17G>A)
| gnomAD v4 |
| 21 | g.45987671G>T | CA2654957046 | COL6A1 | c.804+17G>T (n.804+17G>T)
| gnomAD v4 |
| 21 | g.45987672C>A | CA2654957047 | COL6A1 | c.804+18C>A (n.804+18C>A)
| gnomAD v4 |
| 21 | g.45987674C>A | CA2525882441 | COL6A1 | c.804+20C>A (n.804+20C>A)
| gnomAD v4 |
| 21 | g.45987674C>T | CA2577628412 | COL6A1 | c.804+20C>T (n.804+20C>T)
| ClinVar |
| 21 | g.45987675C>A | CA749827887 | COL6A1 | c.804+21C>A (n.804+21C>A)
| dbSNP |
| 21 | g.45987675C= | CA2392432169 | COL6A1 | c.804+21C= (n.804+21C=)
| |
| 21 | g.45987675C>G | CA2522956709 | COL6A1 | c.804+21C>G (n.804+21C>G)
| gnomAD v4 |
| 21 | g.45987675C>T | CA2577628413 | COL6A1 | c.804+21C>T (n.804+21C>T)
| gnomAD v4 |
| 21 | g.45987676T>G | CA2654957048 | COL6A1 | c.804+22T>G (n.804+22T>G)
| gnomAD v4 |
| 21 | g.45987677C>A | CA2654957049 | COL6A1 | c.804+23C>A (n.804+23C>A)
| gnomAD v4 |
| 21 | g.45987677C>T | CA2577628414 | COL6A1 | c.804+23C>T (n.804+23C>T)
| gnomAD v4 |
| 21 | g.45987678C= | CA2392432170 | COL6A1 | c.804+24C= (n.804+24C=)
| |
| 21 | g.45987678C>T | CA2392432171 | COL6A1 | c.804+24C>T (n.804+24C>T)
| dbSNP gnomAD v4 |
| 21 | g.45987680A= | CA2392432172 | COL6A1 | c.804+26A= (n.804+26A=)
| |
| 21 | g.45987680A>G | CA10069759 | COL6A1 | c.804+26A>G (n.804+26A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987680_45987685delinsATGTGT | CA2392432173 | COL6A1 | c.804+26_804+31delinsATGTGT (n.804+26_804+31delinsATGTGT)
| |
| 21 | g.45987685_45987689del | CA749827889 | COL6A1 | c.804+31_804+35del (n.804+31_804+35del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987682G>C | CA2654957051 | COL6A1 | c.804+28G>C (n.804+28G>C)
| gnomAD v4 |
| 21 | g.45987682G>T | CA2654957050 | COL6A1 | c.804+28G>T (n.804+28G>T)
| gnomAD v4 |
| 21 | g.45987682_45987685delinsGTGT | CA2392432174 | COL6A1 | c.804+28_804+31delinsGTGT (n.804+28_804+31delinsGTGT)
| |
| 21 | g.45987683T>C | CA749827891 | COL6A1 | c.804+29T>C (n.804+29T>C)
| dbSNP gnomAD v4 |
| 21 | g.45987683T= | CA2392432175 | COL6A1 | c.804+29T= (n.804+29T=)
| |
| 21 | g.45987686_45987688del | CA10069760 | COL6A1 | c.804+32_804+34del (n.804+32_804+34del)
| dbSNP ExAC |
| 21 | g.45987684G>A | CA638177868 | COL6A1 | c.804+30G>A (n.804+30G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987684G= | CA2392432176 | COL6A1 | c.804+30G= (n.804+30G=)
| |
| 21 | g.45987684G>T | CA913084386 | COL6A1 | c.804+30G>T (n.804+30G>T)
| gnomAD v4 |
| 21 | g.45987687G>C | CA10069761 | COL6A1 | c.804+33G>C (n.804+33G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987687G= | CA2392432177 | COL6A1 | c.804+33G= (n.804+33G=)
| |
| 21 | g.45987687G>T | CA2654957053 | COL6A1 | c.804+33G>T (n.804+33G>T)
| gnomAD v4 |
| 21 | g.45987688_45987690del | CA2654957052 | COL6A1 | c.804+34_804+36del (n.804+34_804+36del)
| gnomAD v4 |
| 21 | g.45987689G>A | CA10069762 | COL6A1 | c.804+35G>A (n.804+35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987689G= | CA2392432178 | COL6A1 | c.804+35G= (n.804+35G=)
| |
| 21 | g.45987689G>T | CA2654957054 | COL6A1 | c.804+35G>T (n.804+35G>T)
| gnomAD v4 |
| 21 | g.45987690G>A | CA10069763 | COL6A1 | c.804+36G>A (n.804+36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987690G>C | CA2654957055 | COL6A1 | c.804+36G>C (n.804+36G>C)
| gnomAD v4 |
| 21 | g.45987690G= | CA2392432179 | COL6A1 | c.804+36G= (n.804+36G=)
| |
| 21 | g.45987690G>T | CA2654957056 | COL6A1 | c.804+36G>T (n.804+36G>T)
| gnomAD v4 |
| 21 | g.45987691G>A | CA2654957058 | COL6A1 | c.804+37G>A (n.804+37G>A)
| gnomAD v4 |
| 21 | g.45987691G>C | CA638177872 | COL6A1 | c.804+37G>C (n.804+37G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987691G= | CA2392432180 | COL6A1 | c.804+37G= (n.804+37G=)
| |
| 21 | g.45987691G>T | CA2654957057 | COL6A1 | c.804+37G>T (n.804+37G>T)
| gnomAD v4 |
| 21 | g.45987692G>A | CA2654957059 | COL6A1 | c.804+38G>A (n.804+38G>A)
| gnomAD v4 |
| 21 | g.45987692G= | CA2392432181 | COL6A1 | c.804+38G= (n.804+38G=)
| |
| 21 | g.45987692G>T | CA10069764 | COL6A1 | c.804+38G>T (n.804+38G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987693C>A | CA638177873 | COL6A1 | c.804+39C>A (n.804+39C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987693C= | CA2392432183 | COL6A1 | c.804+39C= (n.804+39C=)
| |
| 21 | g.45987693C>T | CA2654957060 | COL6A1 | c.804+39C>T (n.804+39C>T)
| gnomAD v4 |
| 21 | g.45987693_45987695delinsCCT | CA2392432182 | COL6A1 | c.804+39_804+41delinsCCT (n.804+39_804+41delinsCCT)
| |
| 21 | g.45987694C>A | CA2654957061 | COL6A1 | c.804+40C>A (n.804+40C>A)
| gnomAD v4 |
| 21 | g.45987694C= | CA2392432184 | COL6A1 | c.804+40C= (n.804+40C=)
| |
| 21 | g.45987694C>G | CA10069765 | COL6A1 | c.804+40C>G (n.804+40C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987694C>T | CA2654957062 | COL6A1 | c.804+40C>T (n.804+40C>T)
| gnomAD v4 |
| 21 | g.45987694_45987695del | CA638177875 | COL6A1 | c.804+40_804+41del (n.804+40_804+41del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987696G>A | CA2654957063 | COL6A1 | c.804+42G>A (n.804+42G>A)
| gnomAD v4 |
| 21 | g.45987696G>T | CA2654957064 | COL6A1 | c.804+42G>T (n.804+42G>T)
| gnomAD v4 |
| 21 | g.45987697G>A | CA749827925 | COL6A1 | c.804+43G>A (n.804+43G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987697G= | CA2392432185 | COL6A1 | c.804+43G= (n.804+43G=)
| |
| 21 | g.45987697G>T | CA2535428189 | COL6A1 | c.804+43G>T (n.804+43G>T)
| gnomAD v4 |
| 21 | g.45987698G>A | CA10069766 | COL6A1 | c.804+44G>A (n.804+44G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987698G= | CA2392432186 | COL6A1 | c.804+44G= (n.804+44G=)
| |
| 21 | g.45987698G>T | CA2572318239 | COL6A1 | c.804+44G>T (n.804+44G>T)
| gnomAD v4 |
| 21 | g.45987700G>A | CA2654957066 | COL6A1 | c.804+46G>A (n.804+46G>A)
| gnomAD v4 |
| 21 | g.45987700G>T | CA2654957065 | COL6A1 | c.804+46G>T (n.804+46G>T)
| gnomAD v4 |
| 21 | g.45987700_45987701delinsGT | CA2392432187 | COL6A1 | c.804+46_804+47delinsGT (n.804+46_804+47delinsGT)
| |
| 21 | g.45987701del | CA10069767 | COL6A1 | c.804+47del (n.804+47del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987701T>A | CA2654957068 | COL6A1 | c.804+47T>A (n.804+47T>A)
| gnomAD v4 |
| 21 | g.45987701T>C | CA2654957067 | COL6A1 | c.804+47T>C (n.804+47T>C)
| gnomAD v4 |
| 21 | g.45987702G>A | CA10069768 | COL6A1 | c.804+48G>A (n.804+48G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987702G>C | CA749827931 | COL6A1 | c.804+48G>C (n.804+48G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987702G= | CA2392432188 | COL6A1 | c.804+48G= (n.804+48G=)
| |
| 21 | g.45987702G>T | CA2654957070 | COL6A1 | c.804+48G>T (n.804+48G>T)
| gnomAD v4 |
| 21 | g.45987706del | CA2654957069 | COL6A1 | c.804+52del (n.804+52del)
| gnomAD v4 |
| 21 | g.45987703G>T | CA2654957071 | COL6A1 | c.804+49G>T (n.804+49G>T)
| gnomAD v4 |
| 21 | g.45987704G>A | CA638177881 | COL6A1 | c.804+50G>A (n.804+50G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987704G= | CA2392432189 | COL6A1 | c.804+50G= (n.804+50G=)
| |
| 21 | g.45987704G>T | CA2654957072 | COL6A1 | c.804+50G>T (n.804+50G>T)
| gnomAD v4 |
| 21 | g.45987705G= | CA2392432190 | COL6A1 | c.804+51G= (n.804+51G=)
| |
| 21 | g.45987705G>T | CA10069769 | COL6A1 | c.804+51G>T (n.804+51G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987706G>A | CA10069770 | COL6A1 | c.804+52G>A (n.804+52G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987706G= | CA2392432191 | COL6A1 | c.804+52G= (n.804+52G=)
| |
| 21 | g.45987706G>T | CA2654957073 | COL6A1 | c.804+52G>T (n.804+52G>T)
| gnomAD v4 |
| 21 | g.45987707T>C | CA2654957074 | COL6A1 | c.804+53T>C (n.804+53T>C)
| gnomAD v4 |
| 21 | g.45987708G>T | CA2654957075 | COL6A1 | c.804+54G>T (n.804+54G>T)
| gnomAD v4 |
| 21 | g.45987709G>A | CA2654957076 | COL6A1 | c.804+55G>A (n.804+55G>A)
| gnomAD v4 |
| 21 | g.45987709G>T | CA2654957077 | COL6A1 | c.804+55G>T (n.804+55G>T)
| gnomAD v4 |
| 21 | g.45987710C>A | CA2577628415 | COL6A1 | c.804+56C>A (n.804+56C>A)
| gnomAD v4 |
| 21 | g.45987710C= | CA2392432192 | COL6A1 | c.804+56C= (n.804+56C=)
| |
| 21 | g.45987710C>T | CA2392432193 | COL6A1 | c.804+56C>T (n.804+56C>T)
| dbSNP gnomAD v4 |
| 21 | g.45987711A>G | CA2654957078 | COL6A1 | c.804+57A>G (n.804+57A>G)
| gnomAD v4 |
| 21 | g.45987712G>A | CA749827945 | COL6A1 | c.804+58G>A (n.804+58G>A)
| dbSNP |
| 21 | g.45987712G>C | CA2654957079 | COL6A1 | c.804+58G>C (n.804+58G>C)
| gnomAD v4 |
| 21 | g.45987712G= | CA2392432194 | COL6A1 | c.804+58G= (n.804+58G=)
| |
| 21 | g.45987712G>T | CA2654957080 | COL6A1 | c.804+58G>T (n.804+58G>T)
| gnomAD v4 |
| 21 | g.45987713G>A | CA2654957081 | COL6A1 | c.804+59G>A (n.804+59G>A)
| gnomAD v4 |
| 21 | g.45987713G>C | CA2654957082 | COL6A1 | c.804+59G>C (n.804+59G>C)
| gnomAD v4 |
| 21 | g.45987714A= | CA2392432195 | COL6A1 | c.804+60A= (n.804+60A=)
| |
| 21 | g.45987714A>G | CA749827948 | COL6A1 | c.804+60A>G (n.804+60A>G)
| dbSNP gnomAD v4 |
| 21 | g.45987715C>G | CA2654957083 | COL6A1 | c.804+61C>G (n.804+61C>G)
| gnomAD v4 |
| 21 | g.45987716C>A | CA2577628416 | COL6A1 | c.804+62C>A (n.804+62C>A)
| gnomAD v4 |
| 21 | g.45987716C>T | CA2654957084 | COL6A1 | c.804+62C>T (n.804+62C>T)
| gnomAD v4 |
| 21 | g.45987718A>G | CA2654957085 | COL6A1 | c.804+64A>G (n.804+64A>G)
| gnomAD v4 |
| 21 | g.45987720G>A | CA2577628417 | COL6A1 | c.804+66G>A (n.804+66G>A)
| |
| 21 | g.45987720G>T | CA2654957086 | COL6A1 | c.804+66G>T (n.804+66G>T)
| gnomAD v4 |
| 21 | g.45987721C>A | CA2577628418 | COL6A1 | c.804+67C>A (n.804+67C>A)
| gnomAD v4 |
| 21 | g.45987721C>G | CA2654957089 | COL6A1 | c.804+67C>G (n.804+67C>G)
| gnomAD v4 |
| 21 | g.45987721C>T | CA2654957088 | COL6A1 | c.804+67C>T (n.804+67C>T)
| gnomAD v4 |
| 21 | g.45987722del | CA2654957087 | COL6A1 | c.804+68del (n.804+68del)
| gnomAD v4 |
| 21 | g.45987722C>A | CA2654957091 | COL6A1 | c.804+68C>A (n.804+68C>A)
| gnomAD v4 |
| 21 | g.45987722C>T | CA2654957090 | COL6A1 | c.804+68C>T (n.804+68C>T)
| gnomAD v4 |
| 21 | g.45987724C>A | CA2654957092 | COL6A1 | c.804+70C>A (n.804+70C>A)
| gnomAD v4 |
| 21 | g.45987725C>T | CA2654957093 | COL6A1 | c.804+71C>T (n.804+71C>T)
| gnomAD v4 |
| 21 | g.45987726del | CA2654957094 | COL6A1 | c.804+72del (n.804+72del)
| gnomAD v4 |
| 21 | g.45987727G>T | CA2654957095 | COL6A1 | c.804+73G>T (n.804+73G>T)
| gnomAD v4 |
| 21 | g.45987728G>A | CA2654957096 | COL6A1 | c.804+74G>A (n.804+74G>A)
| gnomAD v4 |
| 21 | g.45987728G>T | CA2654957097 | COL6A1 | c.804+74G>T (n.804+74G>T)
| gnomAD v4 |
| 21 | g.45987729G>A | CA749827950 | COL6A1 | c.804+75G>A (n.804+75G>A)
| dbSNP gnomAD v4 |
| 21 | g.45987729G= | CA2392432196 | COL6A1 | c.804+75G= (n.804+75G=)
| |
| 21 | g.45987729G>T | CA2654957098 | COL6A1 | c.804+75G>T (n.804+75G>T)
| gnomAD v4 |
| 21 | g.45987730C>A | CA2577628419 | COL6A1 | c.804+76C>A (n.804+76C>A)
| gnomAD v4 |
| 21 | g.45987730C= | CA2392432197 | COL6A1 | c.804+76C= (n.804+76C=)
| |
| 21 | g.45987730C>T | CA2392432198 | COL6A1 | c.804+76C>T (n.804+76C>T)
| dbSNP gnomAD v4 |
| 21 | g.45987732C>A | CA2577628420 | COL6A1 | c.804+78C>A (n.804+78C>A)
| dbSNP |
| 21 | g.45987732C>G | CA2654957099 | COL6A1 | c.804+78C>G (n.804+78C>G)
| gnomAD v4 |
| 21 | g.45987732C>T | CA2654957100 | COL6A1 | c.804+78C>T (n.804+78C>T)
| gnomAD v4 |
| 21 | g.45987733C>A | CA2577628421 | COL6A1 | c.804+79C>A (n.804+79C>A)
| gnomAD v4 |
| 21 | g.45987733C>T | CA2654957101 | COL6A1 | c.804+79C>T (n.804+79C>T)
| gnomAD v4 |
| 21 | g.45987734C>A | CA2577628422 | COL6A1 | c.804+80C>A (n.804+80C>A)
| gnomAD v4 |
| 21 | g.45987734C= | CA2392432199 | COL6A1 | c.804+80C= (n.804+80C=)
| |
| 21 | g.45987734C>T | CA2392432200 | COL6A1 | c.804+80C>T (n.804+80C>T)
| dbSNP gnomAD v4 |
| 21 | g.45987735A>C | CA2577628423 | COL6A1 | c.804+81A>C (n.804+81A>C)
| gnomAD v4 |
| 21 | g.45987735A>T | CA2577628424 | COL6A1 | c.804+81A>T (n.804+81A>T)
| |
| 21 | g.45987736A>G | CA2654957102 | COL6A1 | c.804+82A>G (n.804+82A>G)
| gnomAD v4 |
| 21 | g.45987737G>T | CA2577628425 | COL6A1 | c.804+83G>T (n.804+83G>T)
| gnomAD v4 |
| 21 | g.45987739C>A | CA321960218 | COL6A1 | c.804+85C>A (n.804+85C>A)
| dbSNP |
| 21 | g.45987739C= | CA2392432201 | COL6A1 | c.804+85C= (n.804+85C=)
| |
| 21 | g.45987740C>A | CA2577628426 | COL6A1 | c.804+86C>A (n.804+86C>A)
| gnomAD v4 |
| 21 | g.45987740C= | CA2392432202 | COL6A1 | c.804+86C= (n.804+86C=)
| |
| 21 | g.45987740C>T | CA638177884 | COL6A1 | c.804+86C>T (n.804+86C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987742C>A | CA2654957103 | COL6A1 | c.804+88C>A (n.804+88C>A)
| gnomAD v4 |
| 21 | g.45987742C>T | CA2654957104 | COL6A1 | c.804+88C>T (n.804+88C>T)
| gnomAD v4 |
| 21 | g.45987743C>T | CA2654957105 | COL6A1 | c.804+89C>T (n.804+89C>T)
| gnomAD v4 |
| 21 | g.45987744A>C | CA2818096902 | COL6A1 | c.804+90A>C (n.804+90A>C)
| |
| 21 | g.45987744A>G | CA2654957106 | COL6A1 | c.804+90A>G (n.804+90A>G)
| gnomAD v4 |
| 21 | g.45987745T>C | CA2654957107 | COL6A1 | c.804+91T>C (n.804+91T>C)
| gnomAD v4 |
| 21 | g.45987745T>G | CA2517905213 | COL6A1 | c.804+91T>G (n.804+91T>G)
| |
| 21 | g.45987746G>A | CA2577628427 | COL6A1 | c.804+92G>A (n.804+92G>A)
| gnomAD v4 |
| 21 | g.45987746G>T | CA2654957108 | COL6A1 | c.804+92G>T (n.804+92G>T)
| gnomAD v4 |
| 21 | g.45987747A= | CA2392432203 | COL6A1 | c.804+93A= (n.804+93A=)
| |
| 21 | g.45987747A>C | CA2654957109 | COL6A1 | c.804+93A>C (n.804+93A>C)
| gnomAD v4 |
| 21 | g.45987747A>G | CA2546380697 | COL6A1 | c.804+93A>G (n.804+93A>G)
| gnomAD v4 |
| 21 | g.45987747A>T | CA2654957110 | COL6A1 | c.804+93A>T (n.804+93A>T)
| gnomAD v4 |
| 21 | g.45987748G>A | CA2654957111 | COL6A1 | c.804+94G>A (n.804+94G>A)
| gnomAD v4 |
| 21 | g.45987748G>T | CA2654957112 | COL6A1 | c.804+94G>T (n.804+94G>T)
| gnomAD v4 |
| 21 | g.45987748_45987773dup | CA1022877979 | COL6A1 | c.804+94_804+119dup (n.804+94_804+119dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987749G>A | CA749827953 | COL6A1 | c.804+95G>A (n.804+95G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987749G= | CA2392432204 | COL6A1 | c.804+95G= (n.804+95G=)
| |
| 21 | g.45987749G>T | CA2654957113 | COL6A1 | c.804+95G>T (n.804+95G>T)
| gnomAD v4 |
| 21 | g.45987751T>G | CA2654957114 | COL6A1 | c.804+97T>G (n.804+97T>G)
| gnomAD v4 |
| 21 | g.45987752C>A | CA2654957115 | COL6A1 | c.804+98C>A (n.804+98C>A)
| gnomAD v4 |
| 21 | g.45987752C= | CA2392432205 | COL6A1 | c.804+98C= (n.804+98C=)
| |
| 21 | g.45987752C>G | CA2392432206 | COL6A1 | c.804+98C>G (n.804+98C>G)
| dbSNP gnomAD v4 |
| 21 | g.45987752C>T | CA749827956 | COL6A1 | c.804+98C>T (n.804+98C>T)
| dbSNP |
| 21 | g.45987753del | CA2577628428 | COL6A1 | c.804+99del (n.804+99del)
| |
| 21 | g.45987754A>G | CA1022877980 | COL6A1 | c.804+100A>G (n.804+100A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987754A>T | CA2530864651 | COL6A1 | c.804+100A>T (n.804+100A>T)
| gnomAD v4 |
| 21 | g.45987754_45987778delinsAGAGGGGACGGCGGGGGTCCAGATG | CA2392432207 | COL6A1 | c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG (n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG)
| |
| 21 | g.45987755G>T | CA2654957116 | COL6A1 | c.804+101G>T (n.804+101G>T)
| gnomAD v4 |
| 21 | g.45987769_45987770insTCCAGATGGAGGGGACGGCGGGG | CA2654957119 | COL6A1 | c.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG (n.804+115_804+116insTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957121 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957120 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957118 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987816dup | CA1022877983 | COL6A1 | c.804+139_804+162dup (n.804+139_804+162dup)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45987816dup | CA2654957122 | COL6A1 | c.804+115_804+162dup (n.804+115_804+162dup)
| gnomAD v4 |
| 21 | g.45987793_45987816del | CA512711278 | COL6A1 | c.804+139_804+162del (n.804+139_804+162del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45987816del | CA2591412425 | COL6A1 | c.804+115_804+162del (n.804+115_804+162del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987762_45987833del | CA2654957117 | COL6A1 | c.804+108_804+179del (n.804+108_804+179del)
| gnomAD v4 |
| 21 | g.45987769_45988002del | CA2818096906 | COL6A1 | c.804+115_804+348del (n.804+115_804+348del)
| |
| 21 | g.45987756A>G | CA2654957123 | COL6A1 | c.804+102A>G (n.804+102A>G)
| gnomAD v4 |
| 21 | g.45987757G>C | CA1022877985 | COL6A1 | c.804+103G>C (n.804+103G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987760del | CA2654957124 | COL6A1 | c.804+106del (n.804+106del)
| gnomAD v4 |
| 21 | g.45987758G>A | CA1022877986 | COL6A1 | c.804+104G>A (n.804+104G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987758G>C | CA2545736340 | COL6A1 | c.804+104G>C (n.804+104G>C)
| |
| 21 | g.45987758G= | CA2392432208 | COL6A1 | c.804+104G= (n.804+104G=)
| |
| 21 | g.45987758G>T | CA2654957125 | COL6A1 | c.804+104G>T (n.804+104G>T)
| gnomAD v4 |
| 21 | g.45987759G>A | CA2591412426 | COL6A1 | c.804+105G>A (n.804+105G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987759G>T | CA2654957126 | COL6A1 | c.804+105G>T (n.804+105G>T)
| gnomAD v4 |
| 21 | g.45987760G>A | CA1022877987 | COL6A1 | c.804+106G>A (n.804+106G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987760G= | CA2392432210 | COL6A1 | c.804+106G= (n.804+106G=)
| |
| 21 | g.45987760G>T | CA2392432209 | COL6A1 | c.804+106G>T (n.804+106G>T)
| dbSNP gnomAD v4 |
| 21 | g.45987761A= | CA2392432211 | COL6A1 | c.804+107A= (n.804+107A=)
| |
| 21 | g.45987761A>C | CA2654957127 | COL6A1 | c.804+107A>C (n.804+107A>C)
| gnomAD v4 |
| 21 | g.45987761A>G | CA1022877989 | COL6A1 | c.804+107A>G (n.804+107A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987762C>A | CA1022877991 | COL6A1 | c.804+108C>A (n.804+108C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987762C= | CA2392432212 | COL6A1 | c.804+108C= (n.804+108C=)
| |
| 21 | g.45987762C>G | CA1022877990 | COL6A1 | c.804+108C>G (n.804+108C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987762C>T | CA749827959 | COL6A1 | c.804+108C>T (n.804+108C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987763G>A | CA321960226 | COL6A1 | c.804+109G>A (n.804+109G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987763G= | CA2392432213 | COL6A1 | c.804+109G= (n.804+109G=)
| |
| 21 | g.45987763G>T | CA1022877994 | COL6A1 | c.804+109G>T (n.804+109G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987770_45987841del | CA2654957128 | COL6A1 | c.804+116_804+187del (n.804+116_804+187del)
| gnomAD v4 |
| 21 | g.45987765_45988130del | CA1139635882 | COL6A1 | c.804+111_804+476del (n.804+111_804+476del)
| |
| 21 | g.45987764G>A | CA2654957129 | COL6A1 | c.804+110G>A (n.804+110G>A)
| gnomAD v4 |
| 21 | g.45987764G>C | CA749827962 | COL6A1 | c.804+110G>C (n.804+110G>C)
| dbSNP |
| 21 | g.45987764G= | CA2392432214 | COL6A1 | c.804+110G= (n.804+110G=)
| |
| 21 | g.45987764G>T | CA749827965 | COL6A1 | c.804+110G>T (n.804+110G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987764_45987765insGGGGGGTCCAGATGGAGGGGA | CA2654957132 | COL6A1 | c.804+110_804+111insGGGGGGTCCAGATGGAGGGGA (n.804+110_804+111insGGGGGGTCCAGATGGAGGGGA)
| gnomAD v4 |
| 21 | g.45987764_45987765insTGGGGGTCCAGATGGAGGGGA | CA2818096911 | COL6A1 | c.804+110_804+111insTGGGGGTCCAGATGGAGGGGA (n.804+110_804+111insTGGGGGTCCAGATGGAGGGGA)
| |
| 21 | g.45987765C>A | CA2654957130 | COL6A1 | c.804+111C>A (n.804+111C>A)
| gnomAD v4 |
| 21 | g.45987765C= | CA2392432216 | COL6A1 | c.804+111C= (n.804+111C=)
| |
| 21 | g.45987765C>T | CA321960232 | COL6A1 | c.804+111C>T (n.804+111C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987765_45987766delinsCG | CA2392432215 | COL6A1 | c.804+111_804+112delinsCG (n.804+111_804+112delinsCG)
| |
| 21 | g.45987766_45987773del | CA2654957131 | COL6A1 | c.804+112_804+119del (n.804+112_804+119del)
| gnomAD v4 |
| 21 | g.45987765_45987776del | CA2654957133 | COL6A1 | c.804+111_804+122del (n.804+111_804+122del)
| gnomAD v4 |
| 21 | g.45987765_45987790delinsCGGGGGTCCAGATGGAGGGGACGGCG | CA2392432217 | COL6A1 | c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG (n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG)
| |
| 21 | g.45987765_45987766insA | CA2654957134 | COL6A1 | c.804+111_804+112insA (n.804+111_804+112insA)
| gnomAD v4 |
| 21 | g.45987766G>A | CA321960238 | COL6A1 | c.804+112G>A (n.804+112G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987766G>C | CA1022877999 | COL6A1 | c.804+112G>C (n.804+112G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987766G= | CA2392432218 | COL6A1 | c.804+112G= (n.804+112G=)
| |
| 21 | g.45987766G>T | CA1022877998 | COL6A1 | c.804+112G>T (n.804+112G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987770del | CA321960237 | COL6A1 | c.804+116del (n.804+116del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987767_45987770del | CA2654957135 | COL6A1 | c.804+113_804+116del (n.804+113_804+116del)
| gnomAD v4 |
| 21 | g.45987770_45987794del | CA1022878000 | COL6A1 | c.804+116_804+140del (n.804+116_804+140del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987766_45987837delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC | CA2392432220 | COL6A1 | c.804+112_804+183delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC (n.804+112_804+183delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987766_45987860delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432222 | COL6A1 | c.804+112_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+112_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987766_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432219 | COL6A1 | c.804+112_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC (n.804+112_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987766_45987906delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC | CA2392432221 | COL6A1 | c.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC (n.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987767G>C | CA1022878008 | COL6A1 | c.804+113G>C (n.804+113G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987767G>T | CA1022878009 | COL6A1 | c.804+113G>T (n.804+113G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987767_45987768insCG | CA2654957146 | COL6A1 | c.804+113_804+114insCG (n.804+113_804+114insCG)
| gnomAD v4 |
| 21 | g.45987769_45987770insTCCAGATGGAGGGGACGGCGGG | CA2654957137 | COL6A1 | c.804+115_804+116insTCCAGATGGAGGGGACGGCGGG (n.804+115_804+116insTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987770_45987771insCCCAGATGGAGGGGACGGCGGGG | CA920320826 | COL6A1 | c.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG (n.804+116_804+117insCCCAGATGGAGGGGACGGCGGGG)
| dbSNP |
| 21 | g.45987776_45987777insGGGAGGGGACGGCGGGGTCCAGA | CA920320824 | COL6A1 | c.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA (n.804+122_804+123insGGGAGGGGACGGCGGGGTCCAGA)
| dbSNP gnomAD v4 |
| 21 | g.45987779_45987780insTGGGGACGGCGGGGTCCAGATGG | CA2654957138 | COL6A1 | c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG (n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG)
| gnomAD v4 |
| 21 | g.45987785_45987786insGGGCGGGGTCCAGATGGAGGGGA | CA2654957139 | COL6A1 | c.804+131_804+132insGGGCGGGGTCCAGATGGAGGGGA (n.804+131_804+132insGGGCGGGGTCCAGATGGAGGGGA)
| gnomAD v4 |
| 21 | g.45987785_45987786insTGGCGGGGTCCAGATGGAGGGGA | CA920320827 | COL6A1 | c.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA (n.804+131_804+132insTGGCGGGGTCCAGATGGAGGGGA)
| dbSNP |
| 21 | g.45987787_45987788insTCGGGGTCCAGATGGAGGGGACG | CA2654957136 | COL6A1 | c.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG (n.804+133_804+134insTCGGGGTCCAGATGGAGGGGACG)
| gnomAD v4 |
| 21 | g.45987788_45987789insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG | CA2654957140 | COL6A1 | c.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG (n.804+134_804+135insTGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957144 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957143 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957142 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957141 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957150 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACAGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG | CA2654957145 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACAGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACAGCGGGAGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987771_45987793dup | CA920320823 | COL6A1 | c.804+117_804+139dup (n.804+117_804+139dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957147 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987816_45987817insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957148 | COL6A1 | c.804+162_804+163insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987816_45987817insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2818096918 | COL6A1 | c.804+162_804+163insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| |
| 21 | g.45987770_45987816dup | CA2654957149 | COL6A1 | c.804+116_804+162dup (n.804+116_804+162dup)
| gnomAD v4 |
| 21 | g.45987794_45987864del | CA638177893 | COL6A1 | c.804+140_804+210del (n.804+140_804+210del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987887del | CA638177894 | COL6A1 | c.804+140_804+233del (n.804+140_804+233del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987786_45987902del | CA1022878006 | COL6A1 | c.804+132_804+248del (n.804+132_804+248del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987933del | CA638177891 | COL6A1 | c.804+140_804+279del (n.804+140_804+279del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987956del | CA1022878007 | COL6A1 | c.804+140_804+302del (n.804+140_804+302del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987768G>C | CA2654957151 | COL6A1 | c.804+114G>C (n.804+114G>C)
| gnomAD v4 |
| 21 | g.45987768G= | CA2392432223 | COL6A1 | c.804+114G= (n.804+114G=)
| |
| 21 | g.45987768G>T | CA638177895 | COL6A1 | c.804+114G>T (n.804+114G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987768_45987817delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA | CA2392432224 | COL6A1 | c.804+114_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA (n.804+114_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987769G>A | CA321960247 | COL6A1 | c.804+115G>A (n.804+115G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987769G= | CA2392432226 | COL6A1 | c.804+115G= (n.804+115G=)
| |
| 21 | g.45987769_45987771delinsGGT | CA2392432225 | COL6A1 | c.804+115_804+117delinsGGT (n.804+115_804+117delinsGGT)
| |
| 21 | g.45987769_45987773del | CA2654957153 | COL6A1 | c.804+115_804+119del (n.804+115_804+119del)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGG | CA2654957152 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987770_45987818del | CA638177896 | COL6A1 | c.804+116_804+164del (n.804+116_804+164del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45988003delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432227 | COL6A1 | c.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987770G>A | CA749828000 | COL6A1 | c.804+116G>A (n.804+116G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987770G>C | CA321960260 | COL6A1 | c.804+116G>C (n.804+116G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987770G= | CA2392432228 | COL6A1 | c.804+116G= (n.804+116G=)
| |
| 21 | g.45987770G>T | CA2591412429 | COL6A1 | c.804+116G>T (n.804+116G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987770_45987771del | CA1022878016 | COL6A1 | c.804+116_804+117del (n.804+116_804+117del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGG | CA2654957154 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987786_45987833dup | CA2654957156 | COL6A1 | c.804+132_804+179dup (n.804+132_804+179dup)
| gnomAD v4 |
| 21 | g.45987786_45987833del | CA2654957155 | COL6A1 | c.804+132_804+179del (n.804+132_804+179del)
| gnomAD v4 |
| 21 | g.45987770_45987980delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432229 | COL6A1 | c.804+116_804+326delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+116_804+326delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987794_45988027del | CA638177899 | COL6A1 | c.804+140_804+373del (n.804+140_804+373del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
