Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94401548_94401631delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC | CA1726790880 | COL1A2 | c.226-19_279+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC c.220-19_273+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC | |
7 | g.94401550_94401632del | CA162908466 | COL1A2 | c.226-17_279+12del c.220-17_273+12del | dbSNP |
7 | g.94401565_94401569del | CA2776991332 | COL1A2 | c.226-2_228del c.220-2_222del | |
7 | g.94401566G>A | CA162908508 | COL1A2 | c.226-1G>A (n.226-1G>A) c.220-1G>A (n.220-1G>A) | dbSNP gnomAD v4 |
7 | g.94401566G>C | CA127126 | COL1A2 | c.226-1G>C (n.226-1G>C) c.220-1G>C (n.220-1G>C) | ClinVar dbSNP |
7 | g.94401566G= | CA1726790890 | COL1A2 | c.226-1G= (n.226-1G=) c.220-1G= (n.220-1G=) | |
7 | g.94401566G>T | CA368219290 | COL1A2 | c.226-1G>T (n.226-1G>T) c.220-1G>T (n.220-1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401567A>C | CA368219291 | COL1A2 | c.226A>C (p.Asn76His) c.220A>C (p.Asn74His) | gnomAD v4 |
7 | g.94401567A>G | CA368219292 | COL1A2 | c.226A>G (p.Asn76Asp) c.220A>G (p.Asn74Asp) | gnomAD v4 |
7 | g.94401567A>T | CA368219293 | COL1A2 | c.226A>T (p.Asn76Tyr) c.220A>T (p.Asn74Tyr) | |
7 | g.94401568A>C | CA368219294 | COL1A2 | c.227A>C (p.Asn76Thr) c.221A>C (p.Asn74Thr) | gnomAD v4 |
7 | g.94401568A>G | CA368219296 | COL1A2 | c.227A>G (p.Asn76Ser) c.221A>G (p.Asn74Ser) | gnomAD v4 COSMIC |
7 | g.94401568A>T | CA368219295 | COL1A2 | c.227A>T (p.Asn76Ile) c.221A>T (p.Asn74Ile) | gnomAD v4 |
7 | g.94401569C>A | CA368219297 | COL1A2 | c.228C>A (p.Asn76Lys) c.222C>A (p.Asn74Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401569C= | CA1726790891 | COL1A2 | c.228C= (p.Asn76=) c.222C= (p.Asn74=) | |
7 | g.94401569C>G | CA368219298 | COL1A2 | c.228C>G (p.Asn76Lys) c.222C>G (p.Asn74Lys) | gnomAD v4 |
7 | g.94401569C>T | CA456486784 | COL1A2 | c.228C>T (p.Asn76=) c.222C>T (p.Asn74=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401570T>A | CA368219299 | COL1A2 | c.229T>A (p.Phe77Ile) c.223T>A (p.Phe75Ile) | |
7 | g.94401570T>C | CA368219300 | COL1A2 | c.229T>C (p.Phe77Leu) c.223T>C (p.Phe75Leu) | gnomAD v4 |
7 | g.94401570T>G | CA368219301 | COL1A2 | c.229T>G (p.Phe77Val) c.223T>G (p.Phe75Val) | |
7 | g.94401572del | CA2573052939 | COL1A2 | c.231del (p.Phe77LeufsTer19) c.225del (p.Phe75LeufsTer19) | ClinVar dbSNP |
7 | g.94401571T>A | CA368219302 | COL1A2 | c.230T>A (p.Phe77Tyr) c.224T>A (p.Phe75Tyr) | |
7 | g.94401571T>C | CA368219303 | COL1A2 | c.230T>C (p.Phe77Ser) c.224T>C (p.Phe75Ser) | gnomAD v4 |
7 | g.94401571T>G | CA368219304 | COL1A2 | c.230T>G (p.Phe77Cys) c.224T>G (p.Phe75Cys) | |
7 | g.94401572T>A | CA368219305 | COL1A2 | c.231T>A (p.Phe77Leu) c.225T>A (p.Phe75Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401572T>C | CA456486788 | COL1A2 | c.231T>C (p.Phe77=) c.225T>C (p.Phe75=) | gnomAD v4 |
7 | g.94401572T>G | CA368219306 | COL1A2 | c.231T>G (p.Phe77Leu) c.225T>G (p.Phe75Leu) | |
7 | g.94401572T= | CA1726790892 | COL1A2 | c.231T= (p.Phe77=) c.225T= (p.Phe75=) | |
7 | g.94401573G>A | CA368219309 | COL1A2 | c.232G>A (p.Ala78Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
7 | g.94401573G>C | CA368219308 | COL1A2 | c.232G>C (p.Ala78Pro) c.226G>C (p.Ala76Pro) | |
7 | g.94401573G>T | CA368219307 | COL1A2 | c.232G>T (p.Ala78Ser) c.226G>T (p.Ala76Ser) | gnomAD v3 gnomAD v4 COSMIC |
7 | g.94401574C>A | CA368219310 | COL1A2 | c.233C>A (p.Ala78Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
7 | g.94401574C>G | CA368219312 | COL1A2 | c.233C>G (p.Ala78Gly) c.227C>G (p.Ala76Gly) | |
7 | g.94401574C>T | CA368219311 | COL1A2 | c.233C>T (p.Ala78Val) c.227C>T (p.Ala76Val) | gnomAD v4 |
7 | g.94401575T>A | CA456486791 | COL1A2 | c.234T>A (p.Ala78=) c.228T>A (p.Ala76=) | |
7 | g.94401575T>C | CA456486792 | COL1A2 | c.234T>C (p.Ala78=) c.228T>C (p.Ala76=) | gnomAD v4 |
7 | g.94401575T>G | CA456486793 | COL1A2 | c.234T>G (p.Ala78=) c.228T>G (p.Ala76=) | gnomAD v4 |
7 | g.94401576G>A | CA368219313 | COL1A2 | c.235G>A (p.Ala79Thr) c.229G>A (p.Ala77Thr) | gnomAD v4 |
7 | g.94401576G>C | CA368219314 | COL1A2 | c.235G>C (p.Ala79Pro) c.229G>C (p.Ala77Pro) | |
7 | g.94401576G>T | CA368219315 | COL1A2 | c.235G>T (p.Ala79Ser) c.229G>T (p.Ala77Ser) | gnomAD v4 |
7 | g.94401577C>A | CA368219316 | COL1A2 | c.236C>A (p.Ala79Asp) c.230C>A (p.Ala77Asp) | gnomAD v4 |
7 | g.94401577C>G | CA368219317 | COL1A2 | c.236C>G (p.Ala79Gly) c.230C>G (p.Ala77Gly) | |
7 | g.94401577C>T | CA368219318 | COL1A2 | c.236C>T (p.Ala79Val) c.230C>T (p.Ala77Val) | gnomAD v4 |
7 | g.94401578T>A | CA456486794 | COL1A2 | c.237T>A (p.Ala79=) c.231T>A (p.Ala77=) | gnomAD v4 |
7 | g.94401578T>C | CA456486795 | COL1A2 | c.237T>C (p.Ala79=) c.231T>C (p.Ala77=) | gnomAD v4 |
7 | g.94401578T>G | CA456486796 | COL1A2 | c.237T>G (p.Ala79=) c.231T>G (p.Ala77=) | |
7 | g.94401579C>A | CA368219319 | COL1A2 | c.238C>A (p.Gln80Lys) c.232C>A (p.Gln78Lys) | gnomAD v4 |
7 | g.94401579C>G | CA368219320 | COL1A2 | c.238C>G (p.Gln80Glu) c.232C>G (p.Gln78Glu) | |
7 | g.94401579C>T | CA368219321 | COL1A2 | c.238C>T (p.Gln80Ter) c.232C>T (p.Gln78Ter) | gnomAD v4 |
7 | g.94401580A>C | CA368219322 | COL1A2 | c.239A>C (p.Gln80Pro) c.233A>C (p.Gln78Pro) | |
7 | g.94401580A>G | CA368219323 | COL1A2 | c.239A>G (p.Gln80Arg) c.233A>G (p.Gln78Arg) | gnomAD v4 |
7 | g.94401580A>T | CA368219324 | COL1A2 | c.239A>T (p.Gln80Leu) c.233A>T (p.Gln78Leu) | |
7 | g.94401581G>A | CA456486798 | COL1A2 | c.240G>A (p.Gln80=) c.234G>A (p.Gln78=) | gnomAD v4 COSMIC |
7 | g.94401581G>C | CA368219326 | COL1A2 | c.240G>C (p.Gln80His) c.234G>C (p.Gln78His) | |
7 | g.94401581G>T | CA368219325 | COL1A2 | c.240G>T (p.Gln80His) c.234G>T (p.Gln78His) | |
7 | g.94401582T>A | CA368219327 | COL1A2 | c.241T>A (p.Tyr81Asn) c.235T>A (p.Tyr79Asn) | |
7 | g.94401582T>C | CA368219328 | COL1A2 | c.241T>C (p.Tyr81His) c.235T>C (p.Tyr79His) | gnomAD v4 |
7 | g.94401582T>G | CA368219329 | COL1A2 | c.241T>G (p.Tyr81Asp) c.235T>G (p.Tyr79Asp) | |
7 | g.94401583A>C | CA368219330 | COL1A2 | c.242A>C (p.Tyr81Ser) c.236A>C (p.Tyr79Ser) | |
7 | g.94401583A>G | CA368219331 | COL1A2 | c.242A>G (p.Tyr81Cys) c.236A>G (p.Tyr79Cys) | gnomAD v4 |
7 | g.94401583A>T | CA368219332 | COL1A2 | c.242A>T (p.Tyr81Phe) c.236A>T (p.Tyr79Phe) | |
7 | g.94401584T>A | CA368219333 | COL1A2 | c.243T>A (p.Tyr81Ter) c.237T>A (p.Tyr79Ter) | |
7 | g.94401584T>C | CA456486800 | COL1A2 | c.243T>C (p.Tyr81=) c.237T>C (p.Tyr79=) | gnomAD v4 |
7 | g.94401584T>G | CA368219334 | COL1A2 | c.243T>G (p.Tyr81Ter) c.237T>G (p.Tyr79Ter) | |
7 | g.94401585G>A | CA368219335 | COL1A2 | c.244G>A (p.Asp82Asn) c.238G>A (p.Asp80Asn) | gnomAD v4 |
7 | g.94401585G>C | CA368219336 | COL1A2 | c.244G>C (p.Asp82His) c.238G>C (p.Asp80His) | |
7 | g.94401585G>T | CA368219337 | COL1A2 | c.244G>T (p.Asp82Tyr) c.238G>T (p.Asp80Tyr) | gnomAD v4 |
7 | g.94401586A= | CA1726790893 | COL1A2 | c.245A= (p.Asp82=) c.239A= (p.Asp80=) | |
7 | g.94401586A>C | CA368219340 | COL1A2 | c.245A>C (p.Asp82Ala) c.239A>C (p.Asp80Ala) | |
7 | g.94401586A>G | CA368219339 | COL1A2 | c.245A>G (p.Asp82Gly) c.239A>G (p.Asp80Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.94401586A>T | CA368219338 | COL1A2 | c.245A>T (p.Asp82Val) c.239A>T (p.Asp80Val) | dbSNP gnomAD v4 |
7 | g.94401587T>A | CA368219341 | COL1A2 | c.246T>A (p.Asp82Glu) c.240T>A (p.Asp80Glu) | gnomAD v4 |
7 | g.94401587T>C | CA4346587 | COL1A2 | c.246T>C (p.Asp82=) c.240T>C (p.Asp80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401587T>G | CA368219342 | COL1A2 | c.246T>G (p.Asp82Glu) c.240T>G (p.Asp80Glu) | dbSNP |
7 | g.94401587T= | CA1726790894 | COL1A2 | c.246T= (p.Asp82=) c.240T= (p.Asp80=) | |
7 | g.94401588G>A | CA368219343 | COL1A2 | c.247G>A (p.Gly83Arg) c.241G>A (p.Gly81Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401588G>C | CA368219344 | COL1A2 | c.247G>C (p.Gly83Arg) c.241G>C (p.Gly81Arg) | |
7 | g.94401588G= | CA1726790895 | COL1A2 | c.247G= (p.Gly83=) c.241G= (p.Gly81=) | |
7 | g.94401588G>T | CA368219345 | COL1A2 | c.247G>T (p.Gly83Ter) c.241G>T (p.Gly81Ter) | gnomAD v4 |
7 | g.94401588_94401590del | CA2683766849 | COL1A2 | c.247_249del (p.Gly83del) c.241_243del (p.Gly81del) | gnomAD v4 |
7 | g.94401589G>A | CA368219346 | COL1A2 | c.248G>A (p.Gly83Glu) c.242G>A (p.Gly81Glu) | gnomAD v4 COSMIC |
7 | g.94401589G>C | CA368219347 | COL1A2 | c.248G>C (p.Gly83Ala) c.242G>C (p.Gly81Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401589G= | CA1726790896 | COL1A2 | c.248G= (p.Gly83=) c.242G= (p.Gly81=) | |
7 | g.94401589G>T | CA368219348 | COL1A2 | c.248G>T (p.Gly83Val) c.242G>T (p.Gly81Val) | |
7 | g.94401590A>C | CA456486803 | COL1A2 | c.249A>C (p.Gly83=) c.243A>C (p.Gly81=) | |
7 | g.94401590A>G | CA456486802 | COL1A2 | c.249A>G (p.Gly83=) c.243A>G (p.Gly81=) | gnomAD v4 |
7 | g.94401590A>T | CA456486801 | COL1A2 | c.249A>T (p.Gly83=) c.243A>T (p.Gly81=) | |
7 | g.94401593del | CA2578941459 | COL1A2 | c.252del (p.Gly85GlufsTer11) c.246del (p.Gly83GlufsTer11) | gnomAD v4 |
7 | g.94401591A>C | CA368219349 | COL1A2 | c.250A>C (p.Lys84Gln) c.244A>C (p.Lys82Gln) | |
7 | g.94401591A>G | CA368219350 | COL1A2 | c.250A>G (p.Lys84Glu) c.244A>G (p.Lys82Glu) | gnomAD v4 |
7 | g.94401591A>T | CA368219351 | COL1A2 | c.250A>T (p.Lys84Ter) c.244A>T (p.Lys82Ter) | |
7 | g.94401592A>C | CA368219354 | COL1A2 | c.251A>C (p.Lys84Thr) c.245A>C (p.Lys82Thr) | |
7 | g.94401592A>G | CA368219353 | COL1A2 | c.251A>G (p.Lys84Arg) c.245A>G (p.Lys82Arg) | gnomAD v4 |
7 | g.94401592A>T | CA368219352 | COL1A2 | c.251A>T (p.Lys84Ile) c.245A>T (p.Lys82Ile) | |
7 | g.94401593A>C | CA368219355 | COL1A2 | c.252A>C (p.Lys84Asn) c.246A>C (p.Lys82Asn) | |
7 | g.94401593A>G | CA456486804 | COL1A2 | c.252A>G (p.Lys84=) c.246A>G (p.Lys82=) | gnomAD v4 |
7 | g.94401593A>T | CA368219356 | COL1A2 | c.252A>T (p.Lys84Asn) c.246A>T (p.Lys82Asn) | |
7 | g.94401594G>A | CA368219357 | COL1A2 | c.253G>A (p.Gly85Arg) c.247G>A (p.Gly83Arg) | gnomAD v4 |
7 | g.94401594G>C | CA368219358 | COL1A2 | c.253G>C (p.Gly85Arg) c.247G>C (p.Gly83Arg) | |
7 | g.94401594G>T | CA368219359 | COL1A2 | c.253G>T (p.Gly85Ter) c.247G>T (p.Gly83Ter) | gnomAD v4 |
7 | g.94401594_94401595delinsAA | CA645565819 | COL1A2 | c.253_254delinsAA (p.Gly85Lys) c.247_248delinsAA (p.Gly83Lys) | COSMIC |
7 | g.94401595G>A | CA368219360 | COL1A2 | c.254G>A (p.Gly85Glu) c.248G>A (p.Gly83Glu) | gnomAD v4 |
7 | g.94401595G>C | CA368219361 | COL1A2 | c.254G>C (p.Gly85Ala) c.248G>C (p.Gly83Ala) | |
7 | g.94401595G= | CA1726790897 | COL1A2 | c.254G= (p.Gly85=) c.248G= (p.Gly83=) | |
7 | g.94401595G>T | CA368219362 | COL1A2 | c.254G>T (p.Gly85Val) c.248G>T (p.Gly83Val) | ClinVar dbSNP gnomAD v4 |
7 | g.94401596A= | CA1726790898 | COL1A2 | c.255A= (p.Gly85=) c.249A= (p.Gly83=) | |
7 | g.94401596A>C | CA4346588 | COL1A2 | c.255A>C (p.Gly85=) c.249A>C (p.Gly83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401596A>G | CA4346589 | COL1A2 | c.255A>G (p.Gly85=) c.249A>G (p.Gly83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401596A>T | CA456486805 | COL1A2 | c.255A>T (p.Gly85=) c.249A>T (p.Gly83=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401597G>A | CA368219363 | COL1A2 | c.256G>A (p.Val86Ile) c.250G>A (p.Val84Ile) | gnomAD v4 |
7 | g.94401597G>C | CA4346590 | COL1A2 | c.256G>C (p.Val86Leu) c.250G>C (p.Val84Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401597G= | CA1726790899 | COL1A2 | c.256G= (p.Val86=) c.250G= (p.Val84=) | |
7 | g.94401597G>T | CA368219364 | COL1A2 | c.256G>T (p.Val86Phe) c.250G>T (p.Val84Phe) | |
7 | g.94401598T>A | CA368219366 | COL1A2 | c.257T>A (p.Val86Asp) c.251T>A (p.Val84Asp) | |
7 | g.94401598T>C | CA368219367 | COL1A2 | c.257T>C (p.Val86Ala) c.251T>C (p.Val84Ala) | dbSNP gnomAD v4 |
7 | g.94401598T>G | CA368219365 | COL1A2 | c.257T>G (p.Val86Gly) c.251T>G (p.Val84Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401598T= | CA1726790900 | COL1A2 | c.257T= (p.Val86=) c.251T= (p.Val84=) | |
7 | g.94401599T>A | CA456486806 | COL1A2 | c.258T>A (p.Val86=) c.252T>A (p.Val84=) | |
7 | g.94401599T>C | CA456486808 | COL1A2 | c.258T>C (p.Val86=) c.252T>C (p.Val84=) | gnomAD v4 |
7 | g.94401599T>G | CA456486807 | COL1A2 | c.258T>G (p.Val86=) c.252T>G (p.Val84=) | |
7 | g.94401604_94401615del | CA2683766850 | COL1A2 | c.263_274del (p.Leu88_Gly91del) c.257_268del (p.Leu86_Gly89del) | gnomAD v4 |
7 | g.94401600G>A | CA368219370 | COL1A2 | c.259G>A (p.Gly87Arg) c.253G>A (p.Gly85Arg) | gnomAD v4 COSMIC |
7 | g.94401600G>C | CA368219368 | COL1A2 | c.259G>C (p.Gly87Arg) c.253G>C (p.Gly85Arg) | |
7 | g.94401600G>T | CA368219369 | COL1A2 | c.259G>T (p.Gly87Ter) c.253G>T (p.Gly85Ter) | COSMIC |
7 | g.94401601G>A | CA368219371 | COL1A2 | c.260G>A (p.Gly87Glu) c.254G>A (p.Gly85Glu) | dbSNP |
7 | g.94401601G>C | CA368219372 | COL1A2 | c.260G>C (p.Gly87Ala) c.254G>C (p.Gly85Ala) | dbSNP |
7 | g.94401601G= | CA1726790901 | COL1A2 | c.260G= (p.Gly87=) c.254G= (p.Gly85=) | |
7 | g.94401601G>T | CA368219373 | COL1A2 | c.260G>T (p.Gly87Val) c.254G>T (p.Gly85Val) | gnomAD v4 |
7 | g.94401602A>C | CA456486809 | COL1A2 | c.261A>C (p.Gly87=) c.255A>C (p.Gly85=) | |
7 | g.94401602A>G | CA456486810 | COL1A2 | c.261A>G (p.Gly87=) c.255A>G (p.Gly85=) | gnomAD v4 COSMIC |
7 | g.94401602A>T | CA456486811 | COL1A2 | c.261A>T (p.Gly87=) c.255A>T (p.Gly85=) | |
7 | g.94401603C>A | CA368219376 | COL1A2 | c.262C>A (p.Leu88Ile) c.256C>A (p.Leu86Ile) | gnomAD v4 |
7 | g.94401603C>G | CA368219375 | COL1A2 | c.262C>G (p.Leu88Val) c.256C>G (p.Leu86Val) | |
7 | g.94401603C>T | CA368219374 | COL1A2 | c.262C>T (p.Leu88Phe) c.256C>T (p.Leu86Phe) | |
7 | g.94401604T>A | CA368219377 | COL1A2 | c.263T>A (p.Leu88His) c.257T>A (p.Leu86His) | |
7 | g.94401604T>C | CA368219378 | COL1A2 | c.263T>C (p.Leu88Pro) c.257T>C (p.Leu86Pro) | gnomAD v4 |
7 | g.94401604T>G | CA368219379 | COL1A2 | c.263T>G (p.Leu88Arg) c.257T>G (p.Leu86Arg) | |
7 | g.94401605T>A | CA162908554 | COL1A2 | c.264T>A (p.Leu88=) c.258T>A (p.Leu86=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401605T>C | CA456486812 | COL1A2 | c.264T>C (p.Leu88=) c.258T>C (p.Leu86=) | |
7 | g.94401605T>G | CA456486813 | COL1A2 | c.264T>G (p.Leu88=) c.258T>G (p.Leu86=) | |
7 | g.94401605T= | CA1726790902 | COL1A2 | c.264T= (p.Leu88=) c.258T= (p.Leu86=) | |
7 | g.94401606G>A | CA368219380 | COL1A2 | c.265G>A (p.Gly89Ser) c.259G>A (p.Gly87Ser) | |
7 | g.94401606G>C | CA368219381 | COL1A2 | c.265G>C (p.Gly89Arg) c.259G>C (p.Gly87Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401606G= | CA1726790903 | COL1A2 | c.265G= (p.Gly89=) c.259G= (p.Gly87=) | |
7 | g.94401606G>T | CA368219382 | COL1A2 | c.265G>T (p.Gly89Cys) c.259G>T (p.Gly87Cys) | |
7 | g.94401607G>A | CA368219385 | COL1A2 | c.266G>A (p.Gly89Asp) c.260G>A (p.Gly87Asp) | ClinVar gnomAD v4 |
7 | g.94401607G>C | CA368219383 | COL1A2 | c.266G>C (p.Gly89Ala) c.260G>C (p.Gly87Ala) | |
7 | g.94401607G= | CA1726790904 | COL1A2 | c.266G= (p.Gly89=) c.260G= (p.Gly87=) | |
7 | g.94401607G>T | CA368219384 | COL1A2 | c.266G>T (p.Gly89Val) c.260G>T (p.Gly87Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401608C>A | CA456486815 | COL1A2 | c.267C>A (p.Gly89=) c.261C>A (p.Gly87=) | gnomAD v4 |
7 | g.94401608C>G | CA456486816 | COL1A2 | c.267C>G (p.Gly89=) c.261C>G (p.Gly87=) | |
7 | g.94401608C>T | CA456486814 | COL1A2 | c.267C>T (p.Gly89=) c.261C>T (p.Gly87=) | gnomAD v4 |
7 | g.94401609C>A | CA368219386 | COL1A2 | c.268C>A (p.Pro90Thr) c.262C>A (p.Pro88Thr) | gnomAD v4 |
7 | g.94401609C= | CA1726790905 | COL1A2 | c.268C= (p.Pro90=) c.262C= (p.Pro88=) | |
7 | g.94401609C>G | CA368219387 | COL1A2 | c.268C>G (p.Pro90Ala) c.262C>G (p.Pro88Ala) | |
7 | g.94401609C>T | CA368219388 | COL1A2 | c.268C>T (p.Pro90Ser) c.262C>T (p.Pro88Ser) | dbSNP gnomAD v4 |
7 | g.94401610C>A | CA368219389 | COL1A2 | c.269C>A (p.Pro90His) c.263C>A (p.Pro88His) | gnomAD v4 |
7 | g.94401610C>G | CA368219390 | COL1A2 | c.269C>G (p.Pro90Arg) c.263C>G (p.Pro88Arg) | |
7 | g.94401610C>T | CA368219391 | COL1A2 | c.269C>T (p.Pro90Leu) c.263C>T (p.Pro88Leu) | gnomAD v4 |
7 | g.94401611T>A | CA456486817 | COL1A2 | c.270T>A (p.Pro90=) c.264T>A (p.Pro88=) | gnomAD v4 |
7 | g.94401611T>C | CA456486818 | COL1A2 | c.270T>C (p.Pro90=) c.264T>C (p.Pro88=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401611T>G | CA456486819 | COL1A2 | c.270T>G (p.Pro90=) c.264T>G (p.Pro88=) | |
7 | g.94401611T= | CA1726790906 | COL1A2 | c.270T= (p.Pro90=) c.264T= (p.Pro88=) | |
7 | g.94401612G>A | CA4346591 | COL1A2 | c.271G>A (p.Gly91Arg) c.265G>A (p.Gly89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401612G>C | CA368219392 | COL1A2 | c.271G>C (p.Gly91Arg) c.265G>C (p.Gly89Arg) | |
7 | g.94401612G= | CA1726790907 | COL1A2 | c.271G= (p.Gly91=) c.265G= (p.Gly89=) | |
7 | g.94401612G>T | CA368219393 | COL1A2 | c.271G>T (p.Gly91Ter) c.265G>T (p.Gly89Ter) | ClinVar dbSNP |
7 | g.94401613del | CA2683766851 | COL1A2 | c.272del (p.Gly91AspfsTer5) c.266del (p.Gly89AspfsTer5) | gnomAD v4 |
7 | g.94401613G>A | CA368219394 | COL1A2 | c.272G>A (p.Gly91Glu) c.266G>A (p.Gly89Glu) | |
7 | g.94401613G>C | CA162908557 | COL1A2 | c.272G>C (p.Gly91Ala) c.266G>C (p.Gly89Ala) | dbSNP gnomAD v4 |
7 | g.94401613G= | CA1726790908 | COL1A2 | c.272G= (p.Gly91=) c.266G= (p.Gly89=) | |
7 | g.94401613G>T | CA368219395 | COL1A2 | c.272G>T (p.Gly91Val) c.266G>T (p.Gly89Val) | |
7 | g.94401614A= | CA1726790909 | COL1A2 | c.273A= (p.Gly91=) c.267A= (p.Gly89=) | |
7 | g.94401614A>C | CA456486820 | COL1A2 | c.273A>C (p.Gly91=) c.267A>C (p.Gly89=) | COSMIC |
7 | g.94401614A>G | CA4346592 | COL1A2 | c.273A>G (p.Gly91=) c.267A>G (p.Gly89=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401614A>T | CA456486821 | COL1A2 | c.273A>T (p.Gly91=) c.267A>T (p.Gly89=) | |
7 | g.94401615C>A | CA368219396 | COL1A2 | c.274C>A (p.Pro92Thr) c.268C>A (p.Pro90Thr) | gnomAD v4 COSMIC |
7 | g.94401615C>G | CA368219398 | COL1A2 | c.274C>G (p.Pro92Ala) c.268C>G (p.Pro90Ala) | |
7 | g.94401615C>T | CA368219397 | COL1A2 | c.274C>T (p.Pro92Ser) c.268C>T (p.Pro90Ser) | gnomAD v4 |
7 | g.94401616C>A | CA368219399 | COL1A2 | c.275C>A (p.Pro92Gln) c.269C>A (p.Pro90Gln) | |
7 | g.94401616C>G | CA368219400 | COL1A2 | c.275C>G (p.Pro92Arg) c.269C>G (p.Pro90Arg) | |
7 | g.94401616C>T | CA368219401 | COL1A2 | c.275C>T (p.Pro92Leu) c.269C>T (p.Pro90Leu) | COSMIC |
7 | g.94401617A>C | CA456486822 | COL1A2 | c.276A>C (p.Pro92=) c.270A>C (p.Pro90=) | |
7 | g.94401617A>G | CA456486823 | COL1A2 | c.276A>G (p.Pro92=) c.270A>G (p.Pro90=) | gnomAD v4 |
7 | g.94401617A>T | CA456486824 | COL1A2 | c.276A>T (p.Pro92=) c.270A>T (p.Pro90=) | |
7 | g.94401618A= | CA1726790910 | COL1A2 | c.277A= (p.Met93=) c.271A= (p.Met91=) | |
7 | g.94401618A>C | CA368219402 | COL1A2 | c.277A>C (p.Met93Leu) c.271A>C (p.Met91Leu) | |
7 | g.94401618A>G | CA368219403 | COL1A2 | c.277A>G (p.Met93Val) c.271A>G (p.Met91Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401618A>T | CA368219404 | COL1A2 | c.277A>T (p.Met93Leu) c.271A>T (p.Met91Leu) | |
7 | g.94401621_94401625del | CA2695208031 | COL1A2 | c.279+1_279+5del c.273+1_273+5del | |
7 | g.94401619T>A | CA368219405 | COL1A2 | c.278T>A (p.Met93Lys) c.272T>A (p.Met91Lys) | |
7 | g.94401619T>C | CA368219406 | COL1A2 | c.278T>C (p.Met93Thr) c.272T>C (p.Met91Thr) | ClinVar gnomAD v4 |
7 | g.94401619T>G | CA368219407 | COL1A2 | c.278T>G (p.Met93Arg) c.272T>G (p.Met91Arg) | |
7 | g.94401620G>A | CA162908568 | COL1A2 | c.279G>A (p.Met93Ile) c.273G>A (p.Met91Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401620G>C | CA368219408 | COL1A2 | c.279G>C (p.Met93Ile) c.273G>C (p.Met91Ile) | |
7 | g.94401620G= | CA1726790911 | COL1A2 | c.279G= (p.Met93=) c.273G= (p.Met91=) | |
7 | g.94401620G>T | CA368219409 | COL1A2 | c.279G>T (p.Met93Ile) c.273G>T (p.Met91Ile) | |
7 | g.94401621del | CA2683766852 | COL1A2 | c.279+1del c.273+1del | gnomAD v4 |
7 | g.94401621G>A | CA162908574 | COL1A2 | c.279+1G>A (n.279+1G>A) c.273+1G>A (n.273+1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.94401621G>C | CA368219410 | COL1A2 | c.279+1G>C (n.279+1G>C) c.273+1G>C (n.273+1G>C) | |
7 | g.94401621G= | CA1726790912 | COL1A2 | c.279+1G= (n.279+1G=) c.273+1G= (n.273+1G=) | |
7 | g.94401621G>T | CA162908576 | COL1A2 | c.279+1G>T (n.279+1G>T) c.273+1G>T (n.273+1G>T) | dbSNP |
7 | g.94401622T>A | CA368219411 | COL1A2 | c.279+2T>A (n.279+2T>A) c.273+2T>A (n.273+2T>A) | |
7 | g.94401622T>C | CA212996 | COL1A2 | c.279+2T>C (n.279+2T>C) c.273+2T>C (n.273+2T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.94401622T>G | CA368219412 | COL1A2 | c.279+2T>G (n.279+2T>G) c.273+2T>G (n.273+2T>G) | |
7 | g.94401622T= | CA1726790913 | COL1A2 | c.279+2T= (n.279+2T=) c.273+2T= (n.273+2T=) | |
7 | g.94401623A= | CA1726790914 | COL1A2 | c.279+3A= (n.279+3A=) c.273+3A= (n.273+3A=) | |
7 | g.94401623A>C | CA2573052940 | COL1A2 | c.279+3A>C (n.279+3A>C) c.273+3A>C (n.273+3A>C) | ClinVar dbSNP |
7 | g.94401623A>G | CA4346593 | COL1A2 | c.279+3A>G (n.279+3A>G) c.273+3A>G (n.273+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401623A>T | CA1104604222 | COL1A2 | c.279+3A>T (n.279+3A>T) c.273+3A>T (n.273+3A>T) | dbSNP gnomAD v4 |
7 | g.94401624T>C | CA4346594 | COL1A2 | c.279+4T>C (n.279+4T>C) c.273+4T>C (n.273+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401624T>G | CA2683766853 | COL1A2 | c.279+4T>G (n.279+4T>G) c.273+4T>G (n.273+4T>G) | gnomAD v4 |
7 | g.94401624T= | CA1726790915 | COL1A2 | c.279+4T= (n.279+4T=) c.273+4T= (n.273+4T=) | |
7 | g.94401625G>A | CA576321455 | COL1A2 | c.279+5G>A (n.279+5G>A) c.273+5G>A (n.273+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401625G>C | CA2683766854 | COL1A2 | c.279+5G>C (n.279+5G>C) c.273+5G>C (n.273+5G>C) | gnomAD v4 |
7 | g.94401625G= | CA1726790916 | COL1A2 | c.279+5G= (n.279+5G=) c.273+5G= (n.273+5G=) | |
7 | g.94401625G>T | CA2683766855 | COL1A2 | c.279+5G>T (n.279+5G>T) c.273+5G>T (n.273+5G>T) | gnomAD v4 |
7 | g.94401626C>G | CA2683766856 | COL1A2 | c.279+6C>G (n.279+6C>G) c.273+6C>G (n.273+6C>G) | gnomAD v4 |
7 | g.94401626C>T | CA2683766857 | COL1A2 | c.279+6C>T (n.279+6C>T) c.273+6C>T (n.273+6C>T) | gnomAD v4 |
7 | g.94401627T>A | CA4346595 | COL1A2 | c.279+7T>A (n.279+7T>A) c.273+7T>A (n.273+7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401627T>C | CA2683766858 | COL1A2 | c.279+7T>C (n.279+7T>C) c.273+7T>C (n.273+7T>C) | gnomAD v4 |
7 | g.94401627T= | CA1726790917 | COL1A2 | c.279+7T= (n.279+7T=) c.273+7T= (n.273+7T=) | |
7 | g.94401629A= | CA1726790918 | COL1A2 | c.279+9A= (n.279+9A=) c.273+9A= (n.273+9A=) | |
7 | g.94401629A>C | CA4346596 | COL1A2 | c.279+9A>C (n.279+9A>C) c.273+9A>C (n.273+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401629A>T | CA2683766859 | COL1A2 | c.279+9A>T (n.279+9A>T) c.273+9A>T (n.273+9A>T) | gnomAD v4 |
7 | g.94401630T>C | CA4346597 | COL1A2 | c.279+10T>C (n.279+10T>C) c.273+10T>C (n.273+10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401630T= | CA1726790919 | COL1A2 | c.279+10T= (n.279+10T=) c.273+10T= (n.273+10T=) | |
7 | g.94401631C>A | CA2683766860 | COL1A2 | c.279+11C>A (n.279+11C>A) c.273+11C>A (n.273+11C>A) | gnomAD v4 |
7 | g.94401632T>C | CA4346598 | COL1A2 | c.279+12T>C (n.279+12T>C) c.273+12T>C (n.273+12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401632T= | CA1726790920 | COL1A2 | c.279+12T= (n.279+12T=) c.273+12T= (n.273+12T=) | |
7 | g.94401633_94401636del | CA2683766861 | COL1A2 | c.279+13_279+16del (n.279+13_279+16del) c.273+13_273+16del (n.273+13_273+16del) | gnomAD v4 |
7 | g.94401633G>A | CA2683766862 | COL1A2 | c.279+13G>A (n.279+13G>A) c.273+13G>A (n.273+13G>A) | gnomAD v4 |
7 | g.94401633G>C | CA162908615 | COL1A2 | c.279+13G>C (n.279+13G>C) c.273+13G>C (n.273+13G>C) | dbSNP gnomAD v4 |
7 | g.94401633G= | CA1726790921 | COL1A2 | c.279+13G= (n.279+13G=) c.273+13G= (n.273+13G=) | |
7 | g.94401633G>T | CA2683766863 | COL1A2 | c.279+13G>T (n.279+13G>T) c.273+13G>T (n.273+13G>T) | gnomAD v4 |
7 | g.94401634T>A | CA576321456 | COL1A2 | c.279+14T>A (n.279+14T>A) c.273+14T>A (n.273+14T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401634T>C | CA1726790923 | COL1A2 | c.279+14T>C (n.279+14T>C) c.273+14T>C (n.273+14T>C) | dbSNP |
7 | g.94401634T= | CA1726790922 | COL1A2 | c.279+14T= (n.279+14T=) c.273+14T= (n.273+14T=) | |
7 | g.94401635T>C | CA2683766864 | COL1A2 | c.279+15T>C (n.279+15T>C) c.273+15T>C (n.273+15T>C) | gnomAD v4 |
7 | g.94401636T>C | CA2683766865 | COL1A2 | c.279+16T>C (n.279+16T>C) c.273+16T>C (n.273+16T>C) | gnomAD v4 |
7 | g.94401637A= | CA1726790924 | COL1A2 | c.279+17A= (n.279+17A=) c.273+17A= (n.273+17A=) | |
7 | g.94401637A>G | CA843997128 | COL1A2 | c.279+17A>G (n.279+17A>G) c.273+17A>G (n.273+17A>G) | dbSNP gnomAD v4 |
7 | g.94401638T>C | CA576321457 | COL1A2 | c.279+18T>C (n.279+18T>C) c.273+18T>C (n.273+18T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401638T= | CA1726790925 | COL1A2 | c.279+18T= (n.279+18T=) c.273+18T= (n.273+18T=) | |
7 | g.94401639C>A | CA2683766866 | COL1A2 | c.279+19C>A (n.279+19C>A) c.273+19C>A (n.273+19C>A) | gnomAD v4 |
7 | g.94401639C= | CA1726790926 | COL1A2 | c.279+19C= (n.279+19C=) c.273+19C= (n.273+19C=) | |
7 | g.94401639C>G | CA4346599 | COL1A2 | c.279+19C>G (n.279+19C>G) c.273+19C>G (n.273+19C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401641T>C | CA4346600 | COL1A2 | c.279+21T>C (n.279+21T>C) c.273+21T>C (n.273+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401641T= | CA1726790928 | COL1A2 | c.279+21T= (n.279+21T=) c.273+21T= (n.273+21T=) | |
7 | g.94401641_94401646delinsTAGCCA | CA1726790927 | COL1A2 | c.279+21_279+26delinsTAGCCA (n.279+21_279+26delinsTAGCCA) c.273+21_273+26delinsTAGCCA (n.273+21_273+26delinsTAGCCA) | |
7 | g.94401642A>G | CA2683766867 | COL1A2 | c.279+22A>G (n.279+22A>G) c.273+22A>G (n.273+22A>G) | gnomAD v4 |
7 | g.94401643_94401647del | CA576321458 | COL1A2 | c.279+23_279+27del (n.279+23_279+27del) c.273+23_273+27del (n.273+23_273+27del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401643G>A | CA2683766869 | COL1A2 | c.279+23G>A (n.279+23G>A) c.273+23G>A (n.273+23G>A) | gnomAD v4 |
7 | g.94401643G>T | CA2683766868 | COL1A2 | c.279+23G>T (n.279+23G>T) c.273+23G>T (n.273+23G>T) | gnomAD v4 |
7 | g.94401644C>A | CA2578941460 | COL1A2 | c.279+24C>A (n.279+24C>A) c.273+24C>A (n.273+24C>A) | gnomAD v4 |
7 | g.94401644C>T | CA2683766870 | COL1A2 | c.279+24C>T (n.279+24C>T) c.273+24C>T (n.273+24C>T) | gnomAD v4 |
7 | g.94401645C>A | CA2683766871 | COL1A2 | c.279+25C>A (n.279+25C>A) c.273+25C>A (n.273+25C>A) | gnomAD v4 |
7 | g.94401645C>T | CA2683766872 | COL1A2 | c.279+25C>T (n.279+25C>T) c.273+25C>T (n.273+25C>T) | gnomAD v4 |
7 | g.94401645_94401646delinsCA | CA1726790929 | COL1A2 | c.279+25_279+26delinsCA (n.279+25_279+26delinsCA) c.273+25_273+26delinsCA (n.273+25_273+26delinsCA) | |
7 | g.94401652dup | CA4346601 | COL1A2 | c.279+32dup (n.279+32dup) c.273+32dup (n.273+32dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401652del | CA4346602 | COL1A2 | c.279+32del (n.279+32del) c.273+32del (n.273+32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401647A= | CA1726790930 | COL1A2 | c.279+27A= (n.279+27A=) c.273+27A= (n.273+27A=) | |
7 | g.94401647A>G | CA4346603 | COL1A2 | c.279+27A>G (n.279+27A>G) c.273+27A>G (n.273+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401648_94401649insCACACCCAACAC | CA2776991351 | COL1A2 | c.279+28_279+29insCACACCCAACAC (n.279+28_279+29insCACACCCAACAC) c.273+28_273+29insCACACCCAACAC (n.273+28_273+29insCACACCCAACAC) | |
7 | g.94401650A= | CA1726790932 | COL1A2 | c.279+30A= (n.279+30A=) c.273+30A= (n.273+30A=) | |
7 | g.94401650A>C | CA162908685 | COL1A2 | c.279+30A>C (n.279+30A>C) c.273+30A>C (n.273+30A>C) | dbSNP |
7 | g.94401650A>G | CA1726790931 | COL1A2 | c.279+30A>G (n.279+30A>G) c.273+30A>G (n.273+30A>G) | dbSNP gnomAD v4 |
7 | g.94401650A>T | CA2683766873 | COL1A2 | c.279+30A>T (n.279+30A>T) c.273+30A>T (n.273+30A>T) | gnomAD v4 |
7 | g.94401651A= | CA1726790933 | COL1A2 | c.279+31A= (n.279+31A=) c.273+31A= (n.273+31A=) | |
7 | g.94401651A>G | CA162908704 | COL1A2 | c.279+31A>G (n.279+31A>G) c.273+31A>G (n.273+31A>G) | dbSNP |
7 | g.94401651A>T | CA2578941461 | COL1A2 | c.279+31A>T (n.279+31A>T) c.273+31A>T (n.273+31A>T) | gnomAD v4 |
7 | g.94401652A= | CA1726790934 | COL1A2 | c.279+32A= (n.279+32A=) c.273+32A= (n.273+32A=) | |
7 | g.94401652A>T | CA162908715 | COL1A2 | c.279+32A>T (n.279+32A>T) c.273+32A>T (n.273+32A>T) | dbSNP |
7 | g.94401653T>A | CA2683766874 | COL1A2 | c.279+33T>A (n.279+33T>A) c.273+33T>A (n.273+33T>A) | gnomAD v4 |
7 | g.94401653T>C | CA2683766875 | COL1A2 | c.279+33T>C (n.279+33T>C) c.273+33T>C (n.273+33T>C) | gnomAD v4 |
7 | g.94401654T>C | CA651752634 | COL1A2 | c.279+34T>C (n.279+34T>C) c.273+34T>C (n.273+34T>C) | gnomAD v4 COSMIC |
7 | g.94401655G>A | CA2683766877 | COL1A2 | c.279+35G>A (n.279+35G>A) c.273+35G>A (n.273+35G>A) | gnomAD v4 |
7 | g.94401655G>T | CA2683766876 | COL1A2 | c.279+35G>T (n.279+35G>T) c.273+35G>T (n.273+35G>T) | gnomAD v4 |
7 | g.94401656C>A | CA2683766878 | COL1A2 | c.279+36C>A (n.279+36C>A) c.273+36C>A (n.273+36C>A) | gnomAD v4 |
7 | g.94401657T>A | CA2683766879 | COL1A2 | c.279+37T>A (n.279+37T>A) c.273+37T>A (n.273+37T>A) | gnomAD v4 |
7 | g.94401657T>C | CA2683766880 | COL1A2 | c.279+37T>C (n.279+37T>C) c.273+37T>C (n.273+37T>C) | gnomAD v4 |
7 | g.94401657T>G | CA651752643 | COL1A2 | c.279+37T>G (n.279+37T>G) c.273+37T>G (n.273+37T>G) | COSMIC |
7 | g.94401658A>G | CA2683766882 | COL1A2 | c.279+38A>G (n.279+38A>G) c.273+38A>G (n.273+38A>G) | gnomAD v4 |
7 | g.94401660del | CA2683766881 | COL1A2 | c.279+40del (n.279+40del) c.273+40del (n.273+40del) | gnomAD v4 |
7 | g.94401659A= | CA1726790935 | COL1A2 | c.279+39A= (n.279+39A=) c.273+39A= (n.273+39A=) | |
7 | g.94401659A>C | CA4346604 | COL1A2 | c.279+39A>C (n.279+39A>C) c.273+39A>C (n.273+39A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401660A>G | CA2683766883 | COL1A2 | c.279+40A>G (n.279+40A>G) c.273+40A>G (n.273+40A>G) | gnomAD v4 |
7 | g.94401661T>C | CA2683766884 | COL1A2 | c.279+41T>C (n.279+41T>C) c.273+41T>C (n.273+41T>C) | gnomAD v4 |
7 | g.94401662A>G | CA2683766885 | COL1A2 | c.279+42A>G (n.279+42A>G) c.273+42A>G (n.273+42A>G) | gnomAD v4 |
7 | g.94401664A= | CA1726790936 | COL1A2 | c.279+44A= (n.279+44A=) c.273+44A= (n.273+44A=) | |
7 | g.94401664A>C | CA843997148 | COL1A2 | c.279+44A>C (n.279+44A>C) c.273+44A>C (n.273+44A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401664A>G | CA2683766886 | COL1A2 | c.279+44A>G (n.279+44A>G) c.273+44A>G (n.273+44A>G) | gnomAD v4 |
7 | g.94401665T>A | CA576321459 | COL1A2 | c.279+45T>A (n.279+45T>A) c.273+45T>A (n.273+45T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401665T>C | CA2683766887 | COL1A2 | c.279+45T>C (n.279+45T>C) c.273+45T>C (n.273+45T>C) | gnomAD v4 |
7 | g.94401665T= | CA1726790937 | COL1A2 | c.279+45T= (n.279+45T=) c.273+45T= (n.273+45T=) | |
7 | g.94401666C>A | CA2683766888 | COL1A2 | c.279+46C>A (n.279+46C>A) c.273+46C>A (n.273+46C>A) | gnomAD v4 |
7 | g.94401666C>T | CA2683766889 | COL1A2 | c.279+46C>T (n.279+46C>T) c.273+46C>T (n.273+46C>T) | gnomAD v4 |