| 21 | g.45987508_45988380del | CA2580098894 | COL6A1 | c.748_805-704del
| ClinVar |
| 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 |
| 21 | g.45987771del | CA2654957159 | COL6A1 | c.804+117del (n.804+117del)
| gnomAD v4 |
| 21 | g.45987771T>C | CA1022878019 | COL6A1 | c.804+117T>C (n.804+117T>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987771T>G | CA1022878021 | COL6A1 | c.804+117T>G (n.804+117T>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987785_45987786insTGTCGGGGCTCCAGATGGAGGGGA | CA2654957158 | COL6A1 | c.804+131_804+132insTGTCGGGGCTCCAGATGGAGGGGA (n.804+131_804+132insTGTCGGGGCTCCAGATGGAGGGGA)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGG | CA2654957157 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987793_45988002del | CA1022878020 | COL6A1 | c.804+139_804+348del (n.804+139_804+348del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987772C>A | CA2654957163 | COL6A1 | c.804+118C>A (n.804+118C>A)
| gnomAD v4 |
| 21 | g.45987772C>G | CA2654957164 | COL6A1 | c.804+118C>G (n.804+118C>G)
| gnomAD v4 |
| 21 | g.45987773del | CA2591412430 | COL6A1 | c.804+119del (n.804+119del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987772_45987792del | CA2654957160 | COL6A1 | c.804+118_804+138del (n.804+118_804+138del)
| gnomAD v4 |
| 21 | g.45987772_45987839del | CA2654957161 | COL6A1 | c.804+118_804+185del (n.804+118_804+185del)
| gnomAD v4 |
| 21 | g.45987773_45987844del | CA2654957162 | COL6A1 | c.804+119_804+190del (n.804+119_804+190del)
| gnomAD v4 |
| 21 | g.45987773C>A | CA2654957166 | COL6A1 | c.804+119C>A (n.804+119C>A)
| gnomAD v4 |
| 21 | g.45987773_45987794del | CA2654957165 | COL6A1 | c.804+119_804+140del (n.804+119_804+140del)
| gnomAD v4 |
| 21 | g.45987773_45987841del | CA2654957167 | COL6A1 | c.804+119_804+187del (n.804+119_804+187del)
| gnomAD v4 |
| 21 | g.45987773_45988004del | CA1022878023 | COL6A1 | c.804+119_804+350del (n.804+119_804+350del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987774A= | CA2392432230 | COL6A1 | c.804+120A= (n.804+120A=)
| |
| 21 | g.45987774A>C | CA2818096935 | COL6A1 | c.804+120A>C (n.804+120A>C)
| |
| 21 | g.45987774A>G | CA1022878027 | COL6A1 | c.804+120A>G (n.804+120A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987774A>T | CA1022878026 | COL6A1 | c.804+120A>T (n.804+120A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987775_45987785del | CA2654957168 | COL6A1 | c.804+121_804+131del (n.804+121_804+131del)
| gnomAD v4 |
| 21 | g.45987775G>A | CA2654957171 | COL6A1 | c.804+121G>A (n.804+121G>A)
| gnomAD v4 |
| 21 | g.45987775G>T | CA2654957172 | COL6A1 | c.804+121G>T (n.804+121G>T)
| gnomAD v4 |
| 21 | g.45987776_45987838del | CA2654957169 | COL6A1 | c.804+122_804+184del (n.804+122_804+184del)
| gnomAD v4 |
| 21 | g.45987776_45987841del | CA2654957170 | COL6A1 | c.804+122_804+187del (n.804+122_804+187del)
| gnomAD v4 |
| 21 | g.45987776A>T | CA2654957173 | COL6A1 | c.804+122A>T (n.804+122A>T)
| gnomAD v4 |
| 21 | g.45987777T>A | CA2654957174 | COL6A1 | c.804+123T>A (n.804+123T>A)
| gnomAD v4 |
| 21 | g.45987777T>C | CA1022878031 | COL6A1 | c.804+123T>C (n.804+123T>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987777T>G | CA1022878029 | COL6A1 | c.804+123T>G (n.804+123T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987777T= | CA2392432231 | COL6A1 | c.804+123T= (n.804+123T=)
| |
| 21 | g.45987777_45987778insCC | CA1022878033 | COL6A1 | c.804+123_804+124insCC (n.804+123_804+124insCC)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987778G>A | CA749828004 | COL6A1 | c.804+124G>A (n.804+124G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987778G>C | CA2543810478 | COL6A1 | c.804+124G>C (n.804+124G>C)
| gnomAD v4 |
| 21 | g.45987778G= | CA2392432232 | COL6A1 | c.804+124G= (n.804+124G=)
| |
| 21 | g.45987793_45987794insTCCAGAGGGAGGGGACGGCGGGG | CA2654957175 | COL6A1 | c.804+139_804+140insTCCAGAGGGAGGGGACGGCGGGG (n.804+139_804+140insTCCAGAGGGAGGGGACGGCGGGG)
| gnomAD v4 |
| 21 | g.45987779G>A | CA1022878038 | COL6A1 | c.804+125G>A (n.804+125G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987779G>C | CA2654957177 | COL6A1 | c.804+125G>C (n.804+125G>C)
| gnomAD v4 |
| 21 | g.45987779G>T | CA1022878035 | COL6A1 | c.804+125G>T (n.804+125G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987780_45987838del | CA2654957176 | COL6A1 | c.804+126_804+184del (n.804+126_804+184del)
| gnomAD v4 |
| 21 | g.45987780A>C | CA1022878045 | COL6A1 | c.804+126A>C (n.804+126A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987780A>G | CA1022878042 | COL6A1 | c.804+126A>G (n.804+126A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987780A>T | CA2654957178 | COL6A1 | c.804+126A>T (n.804+126A>T)
| gnomAD v4 |
| 21 | g.45987781G>A | CA1022878046 | COL6A1 | c.804+127G>A (n.804+127G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987781G= | CA2392432233 | COL6A1 | c.804+127G= (n.804+127G=)
| |
| 21 | g.45987781G>T | CA2519916777 | COL6A1 | c.804+127G>T (n.804+127G>T)
| |
| 21 | g.45987782G>A | CA2392432235 | COL6A1 | c.804+128G>A (n.804+128G>A)
| dbSNP gnomAD v4 |
| 21 | g.45987782G>C | CA1022878047 | COL6A1 | c.804+128G>C (n.804+128G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987782G= | CA2392432234 | COL6A1 | c.804+128G= (n.804+128G=)
| |
| 21 | g.45987782G>T | CA2507354766 | COL6A1 | c.804+128G>T (n.804+128G>T)
| gnomAD v4 |
| 21 | g.45987783G>A | CA2565221758 | COL6A1 | c.804+129G>A (n.804+129G>A)
| gnomAD v4 |
| 21 | g.45987783G>T | CA2654957179 | COL6A1 | c.804+129G>T (n.804+129G>T)
| gnomAD v4 |
| 21 | g.45987784G>A | CA2654957180 | COL6A1 | c.804+130G>A (n.804+130G>A)
| gnomAD v4 |
| 21 | g.45987784G>T | CA2535727325 | COL6A1 | c.804+130G>T (n.804+130G>T)
| gnomAD v4 |
| 21 | g.45987785A>C | CA1022878048 | COL6A1 | c.804+131A>C (n.804+131A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987785A>G | CA1022878049 | COL6A1 | c.804+131A>G (n.804+131A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987785A>T | CA1022878051 | COL6A1 | c.804+131A>T (n.804+131A>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987786C>A | CA1022878056 | COL6A1 | c.804+132C>A (n.804+132C>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987786C= | CA2392432237 | COL6A1 | c.804+132C= (n.804+132C=)
| |
| 21 | g.45987786C>G | CA1022878060 | COL6A1 | c.804+132C>G (n.804+132C>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987786C>T | CA321960263 | COL6A1 | c.804+132C>T (n.804+132C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987786_45987787delinsCG | CA2392432236 | COL6A1 | c.804+132_804+133delinsCG (n.804+132_804+133delinsCG)
| |
| 21 | g.45987786_45987834delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT | CA2392432239 | COL6A1 | c.804+132_804+180delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT (n.804+132_804+180delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987786_45987903delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT | CA2392432238 | COL6A1 | c.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT (n.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987787G>A | CA321960264 | COL6A1 | c.804+133G>A (n.804+133G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987787G= | CA2392432240 | COL6A1 | c.804+133G= (n.804+133G=)
| |
| 21 | g.45987787G>T | CA1022878092 | COL6A1 | c.804+133G>T (n.804+133G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987788del | CA321960269 | COL6A1 | c.804+134del (n.804+134del)
| dbSNP gnomAD v4 |
| 21 | g.45987789_45987794del | CA2654957181 | COL6A1 | c.804+135_804+140del (n.804+135_804+140del)
| gnomAD v4 |
| 21 | g.45987788_45987794del | CA2654957182 | COL6A1 | c.804+134_804+140del (n.804+134_804+140del)
| gnomAD v4 |
| 21 | g.45987794_45987841del | CA512711294 | COL6A1 | c.804+140_804+187del (n.804+140_804+187del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987787_45987846del | CA2654957183 | COL6A1 | c.804+133_804+192del (n.804+133_804+192del)
| gnomAD v4 |
| 21 | g.45987794_45987910del | CA638177901 | COL6A1 | c.804+140_804+256del (n.804+140_804+256del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987788G>A | CA2654957184 | COL6A1 | c.804+134G>A (n.804+134G>A)
| gnomAD v4 |
| 21 | g.45987788G= | CA2392432242 | COL6A1 | c.804+134G= (n.804+134G=)
| |
| 21 | g.45987788G>T | CA321960276 | COL6A1 | c.804+134G>T (n.804+134G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987788_45987789delinsGC | CA2392432241 | COL6A1 | c.804+134_804+135delinsGC (n.804+134_804+135delinsGC)
| |
| 21 | g.45987788_45987789insTGGGGTCCAGATGGAGGGGA | CA2654957185 | COL6A1 | c.804+134_804+135insTGGGGTCCAGATGGAGGGGA (n.804+134_804+135insTGGGGTCCAGATGGAGGGGA)
| gnomAD v4 |
| 21 | g.45987789del | CA638177902 | COL6A1 | c.804+135del (n.804+135del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987789C= | CA2392432245 | COL6A1 | c.804+135C= (n.804+135C=)
| |
| 21 | g.45987789C>G | CA2654957186 | COL6A1 | c.804+135C>G (n.804+135C>G)
| gnomAD v4 |
| 21 | g.45987789C>T | CA1022878104 | COL6A1 | c.804+135C>T (n.804+135C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987789_45987790delinsCG | CA2497029956 | COL6A1 | c.804+135_804+136delinsCG (n.804+135_804+136delinsCG)
| |
| 21 | g.45987789_45987792delinsCGGG | CA2392432243 | COL6A1 | c.804+135_804+138delinsCGGG (n.804+135_804+138delinsCGGG)
| |
| 21 | g.45987789_45987804delinsCGGGGGTCCAGATGGA | CA2392432244 | COL6A1 | c.804+135_804+150delinsCGGGGGTCCAGATGGA (n.804+135_804+150delinsCGGGGGTCCAGATGGA)
| |
| 21 | g.45987789_45987814delinsCGGGGGTCCAGATGGAGGGGACGGCG | CA2392432246 | COL6A1 | c.804+135_804+160delinsCGGGGGTCCAGATGGAGGGGACGGCG (n.804+135_804+160delinsCGGGGGTCCAGATGGAGGGGACGGCG)
| |
| 21 | g.45987790G>A | CA1022878115 | COL6A1 | c.804+136G>A (n.804+136G>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987790G>C | CA2654957187 | COL6A1 | c.804+136G>C (n.804+136G>C)
| gnomAD v4 |
| 21 | g.45987790G= | CA2392432250 | COL6A1 | c.804+136G= (n.804+136G=)
| |
| 21 | g.45987790G>T | CA638177906 | COL6A1 | c.804+136G>T (n.804+136G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGGCGGGGGG | CA920320834 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGGCGGGGGG (n.804+139_804+140insTCCAGATGGAGGGGGCGGGGGG)
| dbSNP |
| 21 | g.45987794dup | CA2392432252 | COL6A1 | c.804+140dup (n.804+140dup)
| dbSNP gnomAD v4 |
| 21 | g.45987794del | CA321960282 | COL6A1 | c.804+140del (n.804+140del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.45987793_45987794del | CA1022878111 | COL6A1 | c.804+139_804+140del (n.804+139_804+140del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987792_45987794del | CA1022878112 | COL6A1 | c.804+138_804+140del (n.804+138_804+140del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987791_45987794del | CA2654957188 | COL6A1 | c.804+137_804+140del (n.804+137_804+140del)
| gnomAD v4 |
| 21 | g.45987794_45987808del | CA638177904 | COL6A1 | c.804+140_804+154del (n.804+140_804+154del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987792_45987816del | CA1022878113 | COL6A1 | c.804+138_804+162del (n.804+138_804+162del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987790_45987860delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432249 | COL6A1 | c.804+136_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987790_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432248 | COL6A1 | c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987790_45987906delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC | CA2392432247 | COL6A1 | c.804+136_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC (n.804+136_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987790_45987929delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432251 | COL6A1 | c.804+136_804+275delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+275delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987790_45987791insTGGTCCAGATGGAGGGGACGGC | CA920320839 | COL6A1 | c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC (n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC)
| dbSNP gnomAD v4 |
| 21 | g.45987791G>A | CA749828027 | COL6A1 | c.804+137G>A (n.804+137G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987791G= | CA2392432254 | COL6A1 | c.804+137G= (n.804+137G=)
| |
| 21 | g.45987791G>T | CA1022878120 | COL6A1 | c.804+137G>T (n.804+137G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987792_45987793insAGTCCAGATGGAGGGGATGGCGG | CA2654957191 | COL6A1 | c.804+138_804+139insAGTCCAGATGGAGGGGATGGCGG (n.804+138_804+139insAGTCCAGATGGAGGGGATGGCGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insACGGCGGG | CA2392432253 | COL6A1 | c.804+139_804+140insACGGCGGG (n.804+139_804+140insACGGCGGG)
| dbSNP |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGATGTCGGG | CA920320836 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGATGTCGGG (n.804+139_804+140insTCCAGATGGAGGGGATGTCGGG)
| dbSNP |
| 21 | g.45987793_45987794insTCCAGATGGGGGGGGCGGCGGG | CA920320835 | COL6A1 | c.804+139_804+140insTCCAGATGGGGGGGGCGGCGGG (n.804+139_804+140insTCCAGATGGGGGGGGCGGCGGG)
| dbSNP |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGTCGGG | CA920320837 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGTCGGG (n.804+139_804+140insTCCAGATGGAGGGGACGTCGGG)
| dbSNP |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGG | CA512711301 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGG)
| dbSNP gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG | CA2654957190 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGG | CA2818096940 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGG)
| |
| 21 | g.45987791_45987800del | CA2654957189 | COL6A1 | c.804+137_804+146del (n.804+137_804+146del)
| gnomAD v4 |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957193 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987794_45987816dup | CA2654957192 | COL6A1 | c.804+140_804+162dup (n.804+140_804+162dup)
| gnomAD v4 |
| 21 | g.45987817_45987863dup | CA2654957194 | COL6A1 | c.804+163_804+209dup (n.804+163_804+209dup)
| gnomAD v4 |
| 21 | g.45987817_45987863del | CA512711303 | COL6A1 | c.804+163_804+209del (n.804+163_804+209del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987886del | CA1022878126 | COL6A1 | c.804+163_804+232del (n.804+163_804+232del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987810_45987902del | CA1022878124 | COL6A1 | c.804+156_804+248del (n.804+156_804+248del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987932del | CA1022878123 | COL6A1 | c.804+163_804+278del (n.804+163_804+278del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987955del | CA920320840 | COL6A1 | c.804+163_804+301del (n.804+163_804+301del)
| dbSNP |
| 21 | g.45987791_45987792insC | CA2654957195 | COL6A1 | c.804+137_804+138insC (n.804+137_804+138insC)
| gnomAD v4 |
| 21 | g.45987792G>A | CA2654957197 | COL6A1 | c.804+138G>A (n.804+138G>A)
| gnomAD v4 |
| 21 | g.45987792G>C | CA2654957198 | COL6A1 | c.804+138G>C (n.804+138G>C)
| gnomAD v4 |
| 21 | g.45987792G= | CA2392432256 | COL6A1 | c.804+138G= (n.804+138G=)
| |
| 21 | g.45987792G>T | CA638177909 | COL6A1 | c.804+138G>T (n.804+138G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCAGG | CA2654957196 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCAGG (n.804+139_804+140insTCCAGATGGAGGGGACGGCAGG)
| gnomAD v4 |
| 21 | g.45987792_45987797delinsGGGTCC | CA2392432255 | COL6A1 | c.804+138_804+143delinsGGGTCC (n.804+138_804+143delinsGGGTCC)
| |
| 21 | g.45987792_45987817delinsGGGTCCAGATGGAGGGGACGGCGGGA | CA2392432258 | COL6A1 | c.804+138_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGA (n.804+138_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987792_45988003delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432257 | COL6A1 | c.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987792_45987793insAT | CA1022878131 | COL6A1 | c.804+138_804+139insAT (n.804+138_804+139insAT)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987792_45987793insAGTCCAGATGGAGGGGACGGCGT | CA2654957202 | COL6A1 | c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT (n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT)
| gnomAD v4 |
| 21 | g.45987793G>A | CA321960288 | COL6A1 | c.804+139G>A (n.804+139G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793G= | CA2392432262 | COL6A1 | c.804+139G= (n.804+139G=)
| |
| 21 | g.45987793G>T | CA1022878134 | COL6A1 | c.804+139G>T (n.804+139G>T)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGTG | CA2654957200 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGTG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGTG)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTG | CA2654957201 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTG (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTG)
| gnomAD v4 |
| 21 | g.45987793_45987795del | CA2654957199 | COL6A1 | c.804+139_804+141del (n.804+139_804+141del)
| gnomAD v4 |
| 21 | g.45987793_45987797del | CA638177911 | COL6A1 | c.804+139_804+143del (n.804+139_804+143del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987817delinsGGTCCAGATGGAGGGGACGGCGGGA | CA2392432261 | COL6A1 | c.804+139_804+163delinsGGTCCAGATGGAGGGGACGGCGGGA (n.804+139_804+163delinsGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987794_45987818del | CA920320841 | COL6A1 | c.804+140_804+164del (n.804+140_804+164del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987980delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432260 | COL6A1 | c.804+139_804+326delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+139_804+326delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987793_45988003delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432259 | COL6A1 | c.804+139_804+349delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+139_804+349delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987794_45988004del | CA638177910 | COL6A1 | c.804+140_804+350del (n.804+140_804+350del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987794insTCCA | CA2654957207 | COL6A1 | c.804+139_804+140insTCCA (n.804+139_804+140insTCCA)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACAGCGGGA | CA2654957204 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACAGCGGGA (n.804+139_804+140insTCCAGATGGAGGGGACAGCGGGA)
| gnomAD v4 |
| 21 | g.45987793_45987794insTCCAGATGGAGGGGACGGCGGGA | CA2654957206 | COL6A1 | c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGA (n.804+139_804+140insTCCAGATGGAGGGGACGGCGGGA)
| gnomAD v4 |
| 21 | g.45987794G>A | CA2654957203 | COL6A1 | c.804+140G>A (n.804+140G>A)
| dbSNP gnomAD v4 |
| 21 | g.45987794G>C | CA321960290 | COL6A1 | c.804+140G>C (n.804+140G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794G= | CA2392432265 | COL6A1 | c.804+140G= (n.804+140G=)
| |
| 21 | g.45987794G>T | CA1022878143 | COL6A1 | c.804+140G>T (n.804+140G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987795del | CA2654957205 | COL6A1 | c.804+140_804+141del (n.804+140_804+141del)
| gnomAD v4 |
| 21 | g.45987794_45987795delinsGT | CA2392432264 | COL6A1 | c.804+140_804+141delinsGT (n.804+140_804+141delinsGT)
| |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG | CA2654957208 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987810_45987833dup | CA2654957209 | COL6A1 | c.804+156_804+179dup (n.804+156_804+179dup)
| gnomAD v4 |
| 21 | g.45987810_45987833del | CA638177914 | COL6A1 | c.804+156_804+179del (n.804+156_804+179del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987980del | CA638177916 | COL6A1 | c.804+140_804+326del (n.804+140_804+326del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987980delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432263 | COL6A1 | c.804+140_804+326delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+140_804+326delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987817_45988026del | CA638177917 | COL6A1 | c.804+163_804+372del (n.804+163_804+372del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987795insATGGAGGGGACGGCGGGGC | CA2654957210 | COL6A1 | c.804+140_804+141insATGGAGGGGACGGCGGGGC (n.804+140_804+141insATGGAGGGGACGGCGGGGC)
| gnomAD v4 |
| 21 | g.45987795del | CA638177919 | COL6A1 | c.804+141del (n.804+141del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987795T>A | CA1022878149 | COL6A1 | c.804+141T>A (n.804+141T>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987795T>C | CA1022878152 | COL6A1 | c.804+141T>C (n.804+141T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987795T>G | CA1022878155 | COL6A1 | c.804+141T>G (n.804+141T>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987795T= | CA2392432266 | COL6A1 | c.804+141T= (n.804+141T=)
| |
| 21 | g.45987795dup | CA2654957211 | COL6A1 | c.804+141dup (n.804+141dup)
| gnomAD v4 |
| 21 | g.45987811_45987812insTCGGGGCTCCAGATGGAGGGGACG | CA2654957212 | COL6A1 | c.804+157_804+158insTCGGGGCTCCAGATGGAGGGGACG (n.804+157_804+158insTCGGGGCTCCAGATGGAGGGGACG)
| gnomAD v4 |
| 21 | g.45987834_45988019del | CA638177918 | COL6A1 | c.804+180_804+365del (n.804+180_804+365del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987796C>A | CA2654957214 | COL6A1 | c.804+142C>A (n.804+142C>A)
| gnomAD v4 |
| 21 | g.45987796C>T | CA2818096945 | COL6A1 | c.804+142C>T (n.804+142C>T)
| |
| 21 | g.45987796_45987837del | CA2654957216 | COL6A1 | c.804+142_804+183del (n.804+142_804+183del)
| gnomAD v4 |
| 21 | g.45987797_45987837del | CA2654957213 | COL6A1 | c.804+143_804+183del (n.804+143_804+183del)
| gnomAD v4 |
| 21 | g.45987796_45987839del | CA2654957217 | COL6A1 | c.804+142_804+185del (n.804+142_804+185del)
| gnomAD v4 |
| 21 | g.45987796_45987860del | CA2654957215 | COL6A1 | c.804+142_804+206del (n.804+142_804+206del)
| gnomAD v4 |
