Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188999894_189002903del | CA2740096382 | COL3A1 | c.2183_2347-52del c.2282_2446-52del | ClinVar |
2 | g.188999894_189002899del | CA2740096383 | COL3A1 | c.2183_2347-56del c.2282_2446-56del | ClinVar |
2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189002225_189002232dup | CA2662309502 | COL3A1 | c.2293-73_2293-66dup (n.2293-73_2293-66dup) c.2392-73_2392-66dup (n.2392-73_2392-66dup) | gnomAD v4 |
2 | g.189002227_189002234dup | CA2662309510 | COL3A1 | c.2293-71_2293-64dup (n.2293-71_2293-64dup) c.2392-71_2392-64dup (n.2392-71_2392-64dup) | gnomAD v4 |
2 | g.189002228G>A | CA2662309512 | COL3A1 | c.2293-70G>A (n.2293-70G>A) c.2392-70G>A (n.2392-70G>A) | gnomAD v4 |
2 | g.189002228G>C | CA2662309513 | COL3A1 | c.2293-70G>C (n.2293-70G>C) c.2392-70G>C (n.2392-70G>C) | gnomAD v4 |
2 | g.189002229A= | CA1315402215 | COL3A1 | c.2293-69A= (n.2293-69A=) c.2392-69A= (n.2392-69A=) | |
2 | g.189002229A>G | CA762202325 | COL3A1 | c.2293-69A>G (n.2293-69A>G) c.2392-69A>G (n.2392-69A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002229_189002239delinsATGACATTTCC | CA1315402214 | COL3A1 | c.2293-69_2293-59delinsATGACATTTCC (n.2293-69_2293-59delinsATGACATTTCC) c.2392-69_2392-59delinsATGACATTTCC (n.2392-69_2392-59delinsATGACATTTCC) | |
2 | g.189002230T>G | CA2662309514 | COL3A1 | c.2293-68T>G (n.2293-68T>G) c.2392-68T>G (n.2392-68T>G) | gnomAD v4 |
2 | g.189002232_189002241del | CA762202328 | COL3A1 | c.2293-66_2293-57del (n.2293-66_2293-57del) c.2392-66_2392-57del (n.2392-66_2392-57del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002232A>T | CA2577185716 | COL3A1 | c.2293-66A>T (n.2293-66A>T) c.2392-66A>T (n.2392-66A>T) | gnomAD v4 |
2 | g.189002232_189002257delinsACATTTCCTGCCTAAAGGAGATGACG | CA1315402216 | COL3A1 | c.2293-66_2293-41delinsACATTTCCTGCCTAAAGGAGATGACG (n.2293-66_2293-41delinsACATTTCCTGCCTAAAGGAGATGACG) c.2392-66_2392-41delinsACATTTCCTGCCTAAAGGAGATGACG (n.2392-66_2392-41delinsACATTTCCTGCCTAAAGGAGATGACG) | |
2 | g.189002233C>A | CA2577185717 | COL3A1 | c.2293-65C>A (n.2293-65C>A) c.2392-65C>A (n.2392-65C>A) | gnomAD v4 |
2 | g.189002233C>T | CA2662309515 | COL3A1 | c.2293-65C>T (n.2293-65C>T) c.2392-65C>T (n.2392-65C>T) | gnomAD v4 |
2 | g.189002235_189002259del | CA62555893 | COL3A1 | c.2293-63_2293-39del (n.2293-63_2293-39del) c.2392-63_2392-39del (n.2392-63_2392-39del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002234_189002235delinsAT | CA1315402217 | COL3A1 | c.2293-64_2293-63delinsAT (n.2293-64_2293-63delinsAT) c.2392-64_2392-63delinsAT (n.2392-64_2392-63delinsAT) | |
2 | g.189002237del | CA762202334 | COL3A1 | c.2293-61del (n.2293-61del) c.2392-61del (n.2392-61del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002237T>G | CA2701314023 | COL3A1 | c.2293-61T>G (n.2293-61T>G) c.2392-61T>G (n.2392-61T>G) | dbSNP |
2 | g.189002238C>A | CA2577185718 | COL3A1 | c.2293-60C>A (n.2293-60C>A) c.2392-60C>A (n.2392-60C>A) | gnomAD v4 |
2 | g.189002238C>G | CA2662309516 | COL3A1 | c.2293-60C>G (n.2293-60C>G) c.2392-60C>G (n.2392-60C>G) | gnomAD v4 |
2 | g.189002238C>T | CA2577185719 | COL3A1 | c.2293-60C>T (n.2293-60C>T) c.2392-60C>T (n.2392-60C>T) | |
2 | g.189002239C>G | CA2662309517 | COL3A1 | c.2293-59C>G (n.2293-59C>G) c.2392-59C>G (n.2392-59C>G) | gnomAD v4 |
2 | g.189002241G>C | CA2552595191 | COL3A1 | c.2293-57G>C (n.2293-57G>C) c.2392-57G>C (n.2392-57G>C) | |
2 | g.189002241dup | CA2577185720 | COL3A1 | c.2293-57dup (n.2293-57dup) c.2392-57dup (n.2392-57dup) | gnomAD v4 |
2 | g.189002242C= | CA1315402218 | COL3A1 | c.2293-56C= (n.2293-56C=) c.2392-56C= (n.2392-56C=) | |
2 | g.189002242C>T | CA1315402219 | COL3A1 | c.2293-56C>T (n.2293-56C>T) c.2392-56C>T (n.2392-56C>T) | dbSNP gnomAD v4 |
2 | g.189002243C>A | CA2662309518 | COL3A1 | c.2293-55C>A (n.2293-55C>A) c.2392-55C>A (n.2392-55C>A) | gnomAD v4 |
2 | g.189002243C= | CA1315402220 | COL3A1 | c.2293-55C= (n.2293-55C=) c.2392-55C= (n.2392-55C=) | |
2 | g.189002243C>G | CA762202335 | COL3A1 | c.2293-55C>G (n.2293-55C>G) c.2392-55C>G (n.2392-55C>G) | dbSNP |
2 | g.189002243C>T | CA62555904 | COL3A1 | c.2293-55C>T (n.2293-55C>T) c.2392-55C>T (n.2392-55C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002245A>G | CA2662309519 | COL3A1 | c.2293-53A>G (n.2293-53A>G) c.2392-53A>G (n.2392-53A>G) | gnomAD v4 |
2 | g.189002247del | CA2577185721 | COL3A1 | c.2293-51del (n.2293-51del) c.2392-51del (n.2392-51del) | |
2 | g.189002247A>C | CA2577185722 | COL3A1 | c.2293-51A>C (n.2293-51A>C) c.2392-51A>C (n.2392-51A>C) | |
2 | g.189002247A>G | CA2662309520 | COL3A1 | c.2293-51A>G (n.2293-51A>G) c.2392-51A>G (n.2392-51A>G) | gnomAD v4 |
2 | g.189002248G>A | CA2662309521 | COL3A1 | c.2293-50G>A (n.2293-50G>A) c.2392-50G>A (n.2392-50G>A) | gnomAD v4 |
2 | g.189002248G>C | CA075301 | COL3A1 | c.2293-50G>C (n.2293-50G>C) c.2392-50G>C (n.2392-50G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002248G= | CA1315402221 | COL3A1 | c.2293-50G= (n.2293-50G=) c.2392-50G= (n.2392-50G=) | |
2 | g.189002248G>T | CA2577185723 | COL3A1 | c.2293-50G>T (n.2293-50G>T) c.2392-50G>T (n.2392-50G>T) | |
2 | g.189002249G>C | CA2577185724 | COL3A1 | c.2293-49G>C (n.2293-49G>C) c.2392-49G>C (n.2392-49G>C) | |
2 | g.189002251G>C | CA762202337 | COL3A1 | c.2293-47G>C (n.2293-47G>C) c.2392-47G>C (n.2392-47G>C) | dbSNP |
2 | g.189002251G= | CA1315402222 | COL3A1 | c.2293-47G= (n.2293-47G=) c.2392-47G= (n.2392-47G=) | |
2 | g.189002253T>G | CA075299 | COL3A1 | c.2293-45T>G (n.2293-45T>G) c.2392-45T>G (n.2392-45T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002253T= | CA1315402223 | COL3A1 | c.2293-45T= (n.2293-45T=) c.2392-45T= (n.2392-45T=) | |
2 | g.189002254G>T | CA2577185725 | COL3A1 | c.2293-44G>T (n.2293-44G>T) c.2392-44G>T (n.2392-44G>T) | |
2 | g.189002255A= | CA1315402224 | COL3A1 | c.2293-43A= (n.2293-43A=) c.2392-43A= (n.2392-43A=) | |
2 | g.189002255A>G | CA2577185726 | COL3A1 | c.2293-43A>G (n.2293-43A>G) c.2392-43A>G (n.2392-43A>G) | |
2 | g.189002255A>T | CA075297 | COL3A1 | c.2293-43A>T (n.2293-43A>T) c.2392-43A>T (n.2392-43A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002256C>A | CA2577185727 | COL3A1 | c.2293-42C>A (n.2293-42C>A) c.2392-42C>A (n.2392-42C>A) | gnomAD v4 |
2 | g.189002256C= | CA1315402225 | COL3A1 | c.2293-42C= (n.2293-42C=) c.2392-42C= (n.2392-42C=) | |
2 | g.189002256C>T | CA075294 | COL3A1 | c.2293-42C>T (n.2293-42C>T) c.2392-42C>T (n.2392-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002257G>A | CA538448824 | COL3A1 | c.2293-41G>A (n.2293-41G>A) c.2392-41G>A (n.2392-41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002257G>C | CA2662309522 | COL3A1 | c.2293-41G>C (n.2293-41G>C) c.2392-41G>C (n.2392-41G>C) | gnomAD v4 |
2 | g.189002257G= | CA1315402226 | COL3A1 | c.2293-41G= (n.2293-41G=) c.2392-41G= (n.2392-41G=) | |
2 | g.189002258C>A | CA2577185728 | COL3A1 | c.2293-40C>A (n.2293-40C>A) c.2392-40C>A (n.2392-40C>A) | gnomAD v4 |
2 | g.189002258C>T | CA2662309523 | COL3A1 | c.2293-40C>T (n.2293-40C>T) c.2392-40C>T (n.2392-40C>T) | gnomAD v4 |
2 | g.189002259A= | CA1315402227 | COL3A1 | c.2293-39A= (n.2293-39A=) c.2392-39A= (n.2392-39A=) | |
2 | g.189002259A>G | CA075292 | COL3A1 | c.2293-39A>G (n.2293-39A>G) c.2392-39A>G (n.2392-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002260C>A | CA2662309525 | COL3A1 | c.2293-38C>A (n.2293-38C>A) c.2392-38C>A (n.2392-38C>A) | gnomAD v4 |
2 | g.189002260C>T | CA2662309524 | COL3A1 | c.2293-38C>T (n.2293-38C>T) c.2392-38C>T (n.2392-38C>T) | gnomAD v4 |
2 | g.189002261A= | CA1315402228 | COL3A1 | c.2293-37A= (n.2293-37A=) c.2392-37A= (n.2392-37A=) | |
2 | g.189002261A>C | CA538448825 | COL3A1 | c.2293-37A>C (n.2293-37A>C) c.2392-37A>C (n.2392-37A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002262C>A | CA2662309526 | COL3A1 | c.2293-36C>A (n.2293-36C>A) c.2392-36C>A (n.2392-36C>A) | gnomAD v4 |
2 | g.189002263T>C | CA2662309527 | COL3A1 | c.2293-35T>C (n.2293-35T>C) c.2392-35T>C (n.2392-35T>C) | gnomAD v4 |
2 | g.189002264T>A | CA2753571832 | COL3A1 | c.2293-34T>A (n.2293-34T>A) c.2392-34T>A (n.2392-34T>A) | |
2 | g.189002265C>A | CA2577185729 | COL3A1 | c.2293-33C>A (n.2293-33C>A) c.2392-33C>A (n.2392-33C>A) | gnomAD v4 |
2 | g.189002266A= | CA1315402229 | COL3A1 | c.2293-32A= (n.2293-32A=) c.2392-32A= (n.2392-32A=) | |
2 | g.189002266A>G | CA2662309528 | COL3A1 | c.2293-32A>G (n.2293-32A>G) c.2392-32A>G (n.2392-32A>G) | gnomAD v4 |
2 | g.189002266A>T | CA075289 | COL3A1 | c.2293-32A>T (n.2293-32A>T) c.2392-32A>T (n.2392-32A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002267C>A | CA1040410744 | COL3A1 | c.2293-31C>A (n.2293-31C>A) c.2392-31C>A (n.2392-31C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002267C= | CA1315402230 | COL3A1 | c.2293-31C= (n.2293-31C=) c.2392-31C= (n.2392-31C=) | |
2 | g.189002267C>T | CA2662309529 | COL3A1 | c.2293-31C>T (n.2293-31C>T) c.2392-31C>T (n.2392-31C>T) | gnomAD v4 |
2 | g.189002268T>A | CA075285 | COL3A1 | c.2293-30T>A (n.2293-30T>A) c.2392-30T>A (n.2392-30T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002268T>C | CA1040410749 | COL3A1 | c.2293-30T>C (n.2293-30T>C) c.2392-30T>C (n.2392-30T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002268T>G | CA075287 | COL3A1 | c.2293-30T>G (n.2293-30T>G) c.2392-30T>G (n.2392-30T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002268T= | CA1315402231 | COL3A1 | c.2293-30T= (n.2293-30T=) c.2392-30T= (n.2392-30T=) | |
2 | g.189002269G>C | CA1315402233 | COL3A1 | c.2293-29G>C (n.2293-29G>C) c.2392-29G>C (n.2392-29G>C) | dbSNP |
2 | g.189002269G= | CA1315402232 | COL3A1 | c.2293-29G= (n.2293-29G=) c.2392-29G= (n.2392-29G=) | |
2 | g.189002273C>A | CA2662309530 | COL3A1 | c.2293-25C>A (n.2293-25C>A) c.2392-25C>A (n.2392-25C>A) | gnomAD v4 |
2 | g.189002273C= | CA1315402234 | COL3A1 | c.2293-25C= (n.2293-25C=) c.2392-25C= (n.2392-25C=) | |
2 | g.189002273C>G | CA538448826 | COL3A1 | c.2293-25C>G (n.2293-25C>G) c.2392-25C>G (n.2392-25C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002274T>A | CA075282 | COL3A1 | c.2293-24T>A (n.2293-24T>A) c.2392-24T>A (n.2392-24T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002274T>G | CA2662309531 | COL3A1 | c.2293-24T>G (n.2293-24T>G) c.2392-24T>G (n.2392-24T>G) | gnomAD v4 |
2 | g.189002274T= | CA1315402235 | COL3A1 | c.2293-24T= (n.2293-24T=) c.2392-24T= (n.2392-24T=) | |
2 | g.189002276del | CA2577185730 | COL3A1 | c.2293-22del (n.2293-22del) c.2392-22del (n.2392-22del) | |
2 | g.189002276A>G | CA2662309532 | COL3A1 | c.2293-22A>G (n.2293-22A>G) c.2392-22A>G (n.2392-22A>G) | gnomAD v4 |
2 | g.189002277G>A | CA075280 | COL3A1 | c.2293-21G>A (n.2293-21G>A) c.2392-21G>A (n.2392-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002277G>C | CA538448827 | COL3A1 | c.2293-21G>C (n.2293-21G>C) c.2392-21G>C (n.2392-21G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002277G= | CA1315402236 | COL3A1 | c.2293-21G= (n.2293-21G=) c.2392-21G= (n.2392-21G=) | |
2 | g.189002278G>A | CA647397757 | COL3A1 | c.2293-20G>A (n.2293-20G>A) c.2392-20G>A (n.2392-20G>A) | gnomAD v4 COSMIC |
2 | g.189002278G>C | CA2662309533 | COL3A1 | c.2293-20G>C (n.2293-20G>C) c.2392-20G>C (n.2392-20G>C) | gnomAD v4 |
2 | g.189002280G>A | CA538448828 | COL3A1 | c.2293-18G>A (n.2293-18G>A) c.2392-18G>A (n.2392-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002280G>C | CA2662309534 | COL3A1 | c.2293-18G>C (n.2293-18G>C) c.2392-18G>C (n.2392-18G>C) | gnomAD v4 |
2 | g.189002280G= | CA1315402237 | COL3A1 | c.2293-18G= (n.2293-18G=) c.2392-18G= (n.2392-18G=) | |
2 | g.189002281G>T | CA2701314098 | COL3A1 | c.2293-17G>T (n.2293-17G>T) c.2392-17G>T (n.2392-17G>T) | dbSNP |
2 | g.189002282A>C | CA2573134197 | COL3A1 | c.2293-16A>C (n.2293-16A>C) c.2392-16A>C (n.2392-16A>C) | ClinVar dbSNP gnomAD v4 |
2 | g.189002284A= | CA1315402238 | COL3A1 | c.2293-14A= (n.2293-14A=) c.2392-14A= (n.2392-14A=) | |
2 | g.189002284A>C | CA538448829 | COL3A1 | c.2293-14A>C (n.2293-14A>C) c.2392-14A>C (n.2392-14A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002284A>G | CA2662309535 | COL3A1 | c.2293-14A>G (n.2293-14A>G) c.2392-14A>G (n.2392-14A>G) | gnomAD v4 |
2 | g.189002286T>G | CA1315402240 | COL3A1 | c.2293-12T>G (n.2293-12T>G) c.2392-12T>G (n.2392-12T>G) | dbSNP |
2 | g.189002286T= | CA1315402239 | COL3A1 | c.2293-12T= (n.2293-12T=) c.2392-12T= (n.2392-12T=) | |
2 | g.189002288T>C | CA538448830 | COL3A1 | c.2293-10T>C (n.2293-10T>C) c.2392-10T>C (n.2392-10T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002288T= | CA1315402241 | COL3A1 | c.2293-10T= (n.2293-10T=) c.2392-10T= (n.2392-10T=) | |
2 | g.189002290C>A | CA1139657565 | COL3A1 | c.2293-8C>A (n.2293-8C>A) c.2392-8C>A (n.2392-8C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189002290C= | CA1315402242 | COL3A1 | c.2293-8C= (n.2293-8C=) c.2392-8C= (n.2392-8C=) | |
2 | g.189002291T>C | CA075304 | COL3A1 | c.2293-7T>C (n.2293-7T>C) c.2392-7T>C (n.2392-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002291T= | CA1315402243 | COL3A1 | c.2293-7T= (n.2293-7T=) c.2392-7T= (n.2392-7T=) | |
2 | g.189002292C>T | CA2753571833 | COL3A1 | c.2293-6C>T (n.2293-6C>T) c.2392-6C>T (n.2392-6C>T) | |
2 | g.189002294T>A | CA2753571834 | COL3A1 | c.2293-4T>A (n.2293-4T>A) c.2392-4T>A (n.2392-4T>A) | |
2 | g.189002294_189002301delinsTCAGGGTG | CA1315402244 | COL3A1 | c.2293-4_2296delinsTCAGGGTG c.2392-4_2395delinsTCAGGGTG | |
2 | g.189002295C>T | CA2662309536 | COL3A1 | c.2293-3C>T (n.2293-3C>T) c.2392-3C>T (n.2392-3C>T) | gnomAD v4 |
2 | g.189002295_189002301del | CA891842763 | COL3A1 | c.2293-3_2296del c.2392-3_2395del | ClinVar dbSNP |
2 | g.189002296A= | CA1315402245 | COL3A1 | c.2293-2A= (n.2293-2A=) c.2392-2A= (n.2392-2A=) | |
2 | g.189002296A>C | CA349842571 | COL3A1 | c.2293-2A>C (n.2293-2A>C) c.2392-2A>C (n.2392-2A>C) | ClinVar dbSNP |
2 | g.189002296A>G | CA349842570 | COL3A1 | c.2293-2A>G (n.2293-2A>G) c.2392-2A>G (n.2392-2A>G) | |
2 | g.189002296A>T | CA349842569 | COL3A1 | c.2293-2A>T (n.2293-2A>T) c.2392-2A>T (n.2392-2A>T) | |
2 | g.189002297G>A | CA349842572 | COL3A1 | c.2293-1G>A (n.2293-1G>A) c.2392-1G>A (n.2392-1G>A) | |
2 | g.189002297G>C | CA349842573 | COL3A1 | c.2293-1G>C (n.2293-1G>C) c.2392-1G>C (n.2392-1G>C) | |
2 | g.189002297G>T | CA349842574 | COL3A1 | c.2293-1G>T (n.2293-1G>T) c.2392-1G>T (n.2392-1G>T) | |
2 | g.189002298G>A | CA349842575 | COL3A1 | c.2293G>A (p.Gly765Ser) c.2392G>A (p.Gly798Ser) | |
2 | g.189002298G>C | CA349842576 | COL3A1 | c.2293G>C (p.Gly765Arg) c.2392G>C (p.Gly798Arg) | |
2 | g.189002298G>T | CA349842577 | COL3A1 | c.2293G>T (p.Gly765Cys) c.2392G>T (p.Gly798Cys) | |
2 | g.189002299G>A | CA349842578 | COL3A1 | c.2294G>A (p.Gly765Asp) c.2393G>A (p.Gly798Asp) | ClinVar dbSNP |
2 | g.189002299G>C | CA349842579 | COL3A1 | c.2294G>C (p.Gly765Ala) c.2393G>C (p.Gly798Ala) | |
2 | g.189002299G>T | CA349842580 | COL3A1 | c.2294G>T (p.Gly765Val) c.2393G>T (p.Gly798Val) | |
2 | g.189002300T>A | CA430311215 | COL3A1 | c.2295T>A (p.Gly765=) c.2394T>A (p.Gly798=) | |
2 | g.189002300T>C | CA10587536 | COL3A1 | c.2295T>C (p.Gly765=) c.2394T>C (p.Gly798=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002300T>G | CA430311216 | COL3A1 | c.2295T>G (p.Gly765=) c.2394T>G (p.Gly798=) | gnomAD v4 |
2 | g.189002300T= | CA1315402246 | COL3A1 | c.2295T= (p.Gly765=) c.2394T= (p.Gly798=) | |
2 | g.189002301G>A | CA349842581 | COL3A1 | c.2296G>A (p.Glu766Lys) c.2395G>A (p.Glu799Lys) | |
2 | g.189002301G>C | CA349842582 | COL3A1 | c.2296G>C (p.Glu766Gln) c.2395G>C (p.Glu799Gln) | |
2 | g.189002301G>T | CA349842583 | COL3A1 | c.2296G>T (p.Glu766Ter) c.2395G>T (p.Glu799Ter) | |
2 | g.189002304_189002307del | CA2739277968 | COL3A1 | c.2299_2302del (p.Arg767ValfsTer?) c.2398_2401del (p.Arg800ValfsTer?) | ClinVar |
2 | g.189002302A>C | CA349842585 | COL3A1 | c.2297A>C (p.Glu766Ala) c.2396A>C (p.Glu799Ala) | |
2 | g.189002302A>G | CA349842586 | COL3A1 | c.2297A>G (p.Glu766Gly) c.2396A>G (p.Glu799Gly) | |
2 | g.189002302A>T | CA349842584 | COL3A1 | c.2297A>T (p.Glu766Val) c.2396A>T (p.Glu799Val) | ClinVar |
2 | g.189002303G>A | CA430311218 | COL3A1 | c.2298G>A (p.Glu766=) c.2397G>A (p.Glu799=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002303G>C | CA349842587 | COL3A1 | c.2298G>C (p.Glu766Asp) c.2397G>C (p.Glu799Asp) | |
2 | g.189002303G= | CA1315402247 | COL3A1 | c.2298G= (p.Glu766=) c.2397G= (p.Glu799=) | |
2 | g.189002303G>T | CA349842588 | COL3A1 | c.2298G>T (p.Glu766Asp) c.2397G>T (p.Glu799Asp) | |
2 | g.189002304A= | CA1315402248 | COL3A1 | c.2299A= (p.Arg767=) c.2398A= (p.Arg800=) | |
2 | g.189002304A>C | CA430311221 | COL3A1 | c.2299A>C (p.Arg767=) c.2398A>C (p.Arg800=) | |
2 | g.189002304A>G | CA62555976 | COL3A1 | c.2299A>G (p.Arg767Gly) c.2398A>G (p.Arg800Gly) | dbSNP |
2 | g.189002304A>T | CA349842589 | COL3A1 | c.2299A>T (p.Arg767Ter) c.2398A>T (p.Arg800Ter) | |
2 | g.189002305G>A | CA62555977 | COL3A1 | c.2300G>A (p.Arg767Lys) c.2399G>A (p.Arg800Lys) | ClinVar dbSNP |
2 | g.189002305G>C | CA349842590 | COL3A1 | c.2300G>C (p.Arg767Thr) c.2399G>C (p.Arg800Thr) | |
2 | g.189002305G= | CA1315402249 | COL3A1 | c.2300G= (p.Arg767=) c.2399G= (p.Arg800=) | |
2 | g.189002305G>T | CA349842591 | COL3A1 | c.2300G>T (p.Arg767Ile) c.2399G>T (p.Arg800Ile) | |
2 | g.189002306A>C | CA349842592 | COL3A1 | c.2301A>C (p.Arg767Ser) c.2400A>C (p.Arg800Ser) | |
2 | g.189002306A>G | CA430311223 | COL3A1 | c.2301A>G (p.Arg767=) c.2400A>G (p.Arg800=) | |
2 | g.189002306A>T | CA349842593 | COL3A1 | c.2301A>T (p.Arg767Ser) c.2400A>T (p.Arg800Ser) | |
2 | g.189002307G>A | CA349842594 | COL3A1 | c.2302G>A (p.Gly768Ser) c.2401G>A (p.Gly801Ser) | gnomAD v4 |
2 | g.189002307G>C | CA349842595 | COL3A1 | c.2302G>C (p.Gly768Arg) c.2401G>C (p.Gly801Arg) | COSMIC |
2 | g.189002307G>T | CA349842596 | COL3A1 | c.2302G>T (p.Gly768Cys) c.2401G>T (p.Gly801Cys) | |
2 | g.189002308G>A | CA005363 | COL3A1 | c.2303G>A (p.Gly768Asp) c.2402G>A (p.Gly801Asp) | ClinVar dbSNP |
2 | g.189002308G>C | CA349842597 | COL3A1 | c.2303G>C (p.Gly768Ala) c.2402G>C (p.Gly801Ala) | |
2 | g.189002308G= | CA1315402250 | COL3A1 | c.2303G= (p.Gly768=) c.2402G= (p.Gly801=) | |
2 | g.189002308G>T | CA349842598 | COL3A1 | c.2303G>T (p.Gly768Val) c.2402G>T (p.Gly801Val) | |
2 | g.189002309T>A | CA430311225 | COL3A1 | c.2304T>A (p.Gly768=) c.2403T>A (p.Gly801=) | |
2 | g.189002309T>C | CA430311226 | COL3A1 | c.2304T>C (p.Gly768=) c.2403T>C (p.Gly801=) | ClinVar |
2 | g.189002309T>G | CA430311227 | COL3A1 | c.2304T>G (p.Gly768=) c.2403T>G (p.Gly801=) | dbSNP |
2 | g.189002309T= | CA1315402251 | COL3A1 | c.2304T= (p.Gly768=) c.2403T= (p.Gly801=) | |
2 | g.189002310G>A | CA349842599 | COL3A1 | c.2305G>A (p.Glu769Lys) c.2404G>A (p.Glu802Lys) | |
2 | g.189002310G>C | CA349842600 | COL3A1 | c.2305G>C (p.Glu769Gln) c.2404G>C (p.Glu802Gln) | |
2 | g.189002310G>T | CA349842601 | COL3A1 | c.2305G>T (p.Glu769Ter) c.2404G>T (p.Glu802Ter) | |
2 | g.189002311A>C | CA349842602 | COL3A1 | c.2306A>C (p.Glu769Ala) c.2405A>C (p.Glu802Ala) | |
2 | g.189002311A>G | CA349842603 | COL3A1 | c.2306A>G (p.Glu769Gly) c.2405A>G (p.Glu802Gly) | |
2 | g.189002311A>T | CA349842604 | COL3A1 | c.2306A>T (p.Glu769Val) c.2405A>T (p.Glu802Val) | |
2 | g.189002312A>C | CA349842605 | COL3A1 | c.2307A>C (p.Glu769Asp) c.2406A>C (p.Glu802Asp) | |
2 | g.189002312A>G | CA430311228 | COL3A1 | c.2307A>G (p.Glu769=) c.2406A>G (p.Glu802=) | gnomAD v4 |
2 | g.189002312A>T | CA349842606 | COL3A1 | c.2307A>T (p.Glu769Asp) c.2406A>T (p.Glu802Asp) | |
2 | g.189002313A= | CA1315402252 | COL3A1 | c.2308A= (p.Thr770=) c.2407A= (p.Thr803=) | |
2 | g.189002313A>C | CA349842607 | COL3A1 | c.2308A>C (p.Thr770Pro) c.2407A>C (p.Thr803Pro) | |
2 | g.189002313A>G | CA349842608 | COL3A1 | c.2308A>G (p.Thr770Ala) c.2407A>G (p.Thr803Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002313A>T | CA349842609 | COL3A1 | c.2308A>T (p.Thr770Ser) c.2407A>T (p.Thr803Ser) | |
2 | g.189002314C>A | CA349842611 | COL3A1 | c.2309C>A (p.Thr770Asn) c.2408C>A (p.Thr803Asn) | |
2 | g.189002314C>G | CA349842612 | COL3A1 | c.2309C>G (p.Thr770Ser) c.2408C>G (p.Thr803Ser) | |
2 | g.189002314C>T | CA349842610 | COL3A1 | c.2309C>T (p.Thr770Ile) c.2408C>T (p.Thr803Ile) | |
2 | g.189002315T>A | CA430311231 | COL3A1 | c.2310T>A (p.Thr770=) c.2409T>A (p.Thr803=) | |
2 | g.189002315T>C | CA075313 | COL3A1 | c.2310T>C (p.Thr770=) c.2409T>C (p.Thr803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002315T>G | CA430311233 | COL3A1 | c.2310T>G (p.Thr770=) c.2409T>G (p.Thr803=) | |
2 | g.189002315T= | CA1315402253 | COL3A1 | c.2310T= (p.Thr770=) c.2409T= (p.Thr803=) | |
2 | g.189002316G>A | CA005368 | COL3A1 | c.2311G>A (p.Gly771Ser) c.2410G>A (p.Gly804Ser) | ClinVar dbSNP |
2 | g.189002316G>C | CA349842613 | COL3A1 | c.2311G>C (p.Gly771Arg) c.2410G>C (p.Gly804Arg) | |
2 | g.189002316G= | CA1315402254 | COL3A1 | c.2311G= (p.Gly771=) c.2410G= (p.Gly804=) | |
2 | g.189002316G>T | CA349842614 | COL3A1 | c.2311G>T (p.Gly771Cys) c.2410G>T (p.Gly804Cys) | COSMIC |
2 | g.189002317G>A | CA349842615 | COL3A1 | c.2312G>A (p.Gly771Asp) c.2411G>A (p.Gly804Asp) | |
2 | g.189002317G>C | CA349842616 | COL3A1 | c.2312G>C (p.Gly771Ala) c.2411G>C (p.Gly804Ala) | |
2 | g.189002317G>T | CA16602223 | COL3A1 | c.2312G>T (p.Gly771Val) c.2411G>T (p.Gly804Val) | COSMIC |
2 | g.189002318C>A | CA430311234 | COL3A1 | c.2313C>A (p.Gly771=) c.2412C>A (p.Gly804=) | |
2 | g.189002318C= | CA1315402255 | COL3A1 | c.2313C= (p.Gly771=) c.2412C= (p.Gly804=) | |
2 | g.189002318C>G | CA430311236 | COL3A1 | c.2313C>G (p.Gly771=) c.2412C>G (p.Gly804=) | |
2 | g.189002318C>T | CA075316 | COL3A1 | c.2313C>T (p.Gly771=) c.2412C>T (p.Gly804=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.189002319C>A | CA349842617 | COL3A1 | c.2314C>A (p.Pro772Thr) c.2413C>A (p.Pro805Thr) | |
2 | g.189002319C>G | CA349842618 | COL3A1 | c.2314C>G (p.Pro772Ala) c.2413C>G (p.Pro805Ala) | |
2 | g.189002319C>T | CA349842619 | COL3A1 | c.2314C>T (p.Pro772Ser) c.2413C>T (p.Pro805Ser) | gnomAD v4 |
2 | g.189002320C>A | CA349842620 | COL3A1 | c.2315C>A (p.Pro772His) c.2414C>A (p.Pro805His) | gnomAD v4 |
2 | g.189002320C= | CA1315402256 | COL3A1 | c.2315C= (p.Pro772=) c.2414C= (p.Pro805=) | |
2 | g.189002320C>G | CA349842621 | COL3A1 | c.2315C>G (p.Pro772Arg) c.2414C>G (p.Pro805Arg) | ClinVar dbSNP |
2 | g.189002320C>T | CA349842622 | COL3A1 | c.2315C>T (p.Pro772Leu) c.2414C>T (p.Pro805Leu) | gnomAD v4 |
2 | g.189002321T>A | CA430311239 | COL3A1 | c.2316T>A (p.Pro772=) c.2415T>A (p.Pro805=) | |
2 | g.189002321T>C | CA430311241 | COL3A1 | c.2316T>C (p.Pro772=) c.2415T>C (p.Pro805=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002321T>G | CA430311243 | COL3A1 | c.2316T>G (p.Pro772=) c.2415T>G (p.Pro805=) | |
2 | g.189002321T= | CA1315402257 | COL3A1 | c.2316T= (p.Pro772=) c.2415T= (p.Pro805=) | |
2 | g.189002322C>A | CA349842623 | COL3A1 | c.2317C>A (p.Pro773Thr) c.2416C>A (p.Pro806Thr) | |
2 | g.189002322C= | CA1315402258 | COL3A1 | c.2317C= (p.Pro773=) c.2416C= (p.Pro806=) | |
2 | g.189002322C>G | CA62556005 | COL3A1 | c.2317C>G (p.Pro773Ala) c.2416C>G (p.Pro806Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002322C>T | CA62556012 | COL3A1 | c.2317C>T (p.Pro773Ser) c.2416C>T (p.Pro806Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.189002323C>A | CA349842624 | COL3A1 | c.2318C>A (p.Pro773Gln) c.2417C>A (p.Pro806Gln) | |
2 | g.189002323C= | CA1315402259 | COL3A1 | c.2318C= (p.Pro773=) c.2417C= (p.Pro806=) | |
2 | g.189002323C>G | CA349842625 | COL3A1 | c.2318C>G (p.Pro773Arg) c.2417C>G (p.Pro806Arg) | COSMIC COSMIC |
2 | g.189002323C>T | CA349842626 | COL3A1 | c.2318C>T (p.Pro773Leu) c.2417C>T (p.Pro806Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002324A>C | CA430311246 | COL3A1 | c.2319A>C (p.Pro773=) c.2418A>C (p.Pro806=) | |
2 | g.189002324A>G | CA430311249 | COL3A1 | c.2319A>G (p.Pro773=) c.2418A>G (p.Pro806=) | ClinVar dbSNP |
2 | g.189002324A>T | CA430311247 | COL3A1 | c.2319A>T (p.Pro773=) c.2418A>T (p.Pro806=) | |
2 | g.189002325G>A | CA349842627 | COL3A1 | c.2320G>A (p.Gly774Arg) c.2419G>A (p.Gly807Arg) | ClinVar |
2 | g.189002325G>C | CA349842628 | COL3A1 | c.2320G>C (p.Gly774Arg) c.2419G>C (p.Gly807Arg) | |
2 | g.189002325G>T | CA349842629 | COL3A1 | c.2320G>T (p.Gly774Ter) c.2419G>T (p.Gly807Ter) | |
2 | g.189002326G>A | CA349842630 | COL3A1 | c.2321G>A (p.Gly774Glu) c.2420G>A (p.Gly807Glu) | COSMIC |
2 | g.189002326G>C | CA349842631 | COL3A1 | c.2321G>C (p.Gly774Ala) c.2420G>C (p.Gly807Ala) | |
2 | g.189002326G>T | CA349842632 | COL3A1 | c.2321G>T (p.Gly774Val) c.2420G>T (p.Gly807Val) | |
2 | g.189002327A>C | CA430311250 | COL3A1 | c.2322A>C (p.Gly774=) c.2421A>C (p.Gly807=) | |
2 | g.189002327A>G | CA430311252 | COL3A1 | c.2322A>G (p.Gly774=) c.2421A>G (p.Gly807=) | |
2 | g.189002327A>T | CA430311254 | COL3A1 | c.2322A>T (p.Gly774=) c.2421A>T (p.Gly807=) |