Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189005611_189008365delCA913190217COL3A1c.2940+154_3426+223del
c.3039+154_3525+223del
c.2528-2443_2616+223del
 ClinVar
2g.189007546G>ACA006290COL3A1c.3203G>A (p.Gly1068Glu)
c.3302G>A (p.Gly1101Glu)
c.2528-508G>A (n.2528-508G>A)
 ClinVar dbSNP
2g.189007546G>CCA349845727COL3A1c.3203G>C (p.Gly1068Ala)
c.3302G>C (p.Gly1101Ala)
c.2528-508G>C (n.2528-508G>C)
 COSMIC
2g.189007546G=CA1315404816COL3A1c.3203G= (p.Gly1068=)
c.3302G= (p.Gly1101=)
c.2528-508G= (n.2528-508G=)
2g.189007546G>TCA349845724COL3A1c.3203G>T (p.Gly1068Val)
c.3302G>T (p.Gly1101Val)
c.2528-508G>T (n.2528-508G>T)
2g.189007547A=CA1315404817COL3A1c.3204A= (p.Gly1068=)
c.3303A= (p.Gly1101=)
c.2528-507A= (n.2528-507A=)
2g.189007547A>CCA430313282COL3A1c.3204A>C (p.Gly1068=)
c.3303A>C (p.Gly1101=)
c.2528-507A>C (n.2528-507A>C)
 dbSNP
2g.189007547A>GCA430313284COL3A1c.3204A>G (p.Gly1068=)
c.3303A>G (p.Gly1101=)
c.2528-507A>G (n.2528-507A>G)
2g.189007547A>TCA430313285COL3A1c.3204A>T (p.Gly1068=)
c.3303A>T (p.Gly1101=)
c.2528-507A>T (n.2528-507A>T)
2g.189007548G>ACA349845730COL3A1c.3205G>A (p.Ala1069Thr)
c.3304G>A (p.Ala1102Thr)
c.2528-506G>A (n.2528-506G>A)
2g.189007548G>CCA349845731COL3A1c.3205G>C (p.Ala1069Pro)
c.3304G>C (p.Ala1102Pro)
c.2528-506G>C (n.2528-506G>C)
2g.189007548G=CA1315404818COL3A1c.3205G= (p.Ala1069=)
c.3304G= (p.Ala1102=)
c.2528-506G= (n.2528-506G=)
2g.189007548G>TCA349845733COL3A1c.3205G>T (p.Ala1069Ser)
c.3304G>T (p.Ala1102Ser)
c.2528-506G>T (n.2528-506G>T)
 dbSNP
2g.189007548_189007567delinsGCTGCTGGCATCAAAGGACACA1315404819COL3A1c.3205_3224delinsGCTGCTGGCATCAAAGGACA (p.Ala1069=)
c.3304_3323delinsGCTGCTGGCATCAAAGGACA (p.Ala1102=)
c.2528-506_2528-487delinsGCTGCTGGCATCAAAGGACA (n.2528-506_2528-487delinsGCTGCTGGCATCAAAGGACA)
2g.189007549C>ACA349845734COL3A1c.3206C>A (p.Ala1069Asp)
c.3305C>A (p.Ala1102Asp)
c.2528-505C>A (n.2528-505C>A)
2g.189007549C>GCA349845736COL3A1c.3206C>G (p.Ala1069Gly)
c.3305C>G (p.Ala1102Gly)
c.2528-505C>G (n.2528-505C>G)
2g.189007549C>TCA349845738COL3A1c.3206C>T (p.Ala1069Val)
c.3305C>T (p.Ala1102Val)
c.2528-505C>T (n.2528-505C>T)
2g.189007549_189007567delCA1315404820COL3A1c.3206_3224del (p.Ala1069ValfsTer?)
c.3305_3323del (p.Ala1102ValfsTer?)
c.2528-505_2528-487del (n.2528-505_2528-487del)
 dbSNP
2g.189007550T>ACA430313288COL3A1c.3207T>A (p.Ala1069=)
c.3306T>A (p.Ala1102=)
c.2528-504T>A (n.2528-504T>A)
2g.189007550T>CCA430313290COL3A1c.3207T>C (p.Ala1069=)
c.3306T>C (p.Ala1102=)
c.2528-504T>C (n.2528-504T>C)
2g.189007550T>GCA430313291COL3A1c.3207T>G (p.Ala1069=)
c.3306T>G (p.Ala1102=)
c.2528-504T>G (n.2528-504T>G)
2g.189007551G>ACA349845740COL3A1c.3208G>A (p.Ala1070Thr)
c.3307G>A (p.Ala1103Thr)
c.2528-503G>A (n.2528-503G>A)
 dbSNP gnomAD v4
2g.189007551G>CCA006296COL3A1c.3208G>C (p.Ala1070Pro)
c.3307G>C (p.Ala1103Pro)
c.2528-503G>C (n.2528-503G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007551G=CA1315404821COL3A1c.3208G= (p.Ala1070=)
c.3307G= (p.Ala1103=)
c.2528-503G= (n.2528-503G=)
2g.189007551G>TCA349845742COL3A1c.3208G>T (p.Ala1070Ser)
c.3307G>T (p.Ala1103Ser)
c.2528-503G>T (n.2528-503G>T)
2g.189007552C>ACA349845745COL3A1c.3209C>A (p.Ala1070Asp)
c.3308C>A (p.Ala1103Asp)
c.2528-502C>A (n.2528-502C>A)
2g.189007552C>GCA349845747COL3A1c.3209C>G (p.Ala1070Gly)
c.3308C>G (p.Ala1103Gly)
c.2528-502C>G (n.2528-502C>G)
2g.189007552C>TCA349845748COL3A1c.3209C>T (p.Ala1070Val)
c.3308C>T (p.Ala1103Val)
c.2528-502C>T (n.2528-502C>T)
2g.189007553T>ACA430313294COL3A1c.3210T>A (p.Ala1070=)
c.3309T>A (p.Ala1103=)
c.2528-501T>A (n.2528-501T>A)
2g.189007553T>CCA430313296COL3A1c.3210T>C (p.Ala1070=)
c.3309T>C (p.Ala1103=)
c.2528-501T>C (n.2528-501T>C)
2g.189007553T>GCA430313297COL3A1c.3210T>G (p.Ala1070=)
c.3309T>G (p.Ala1103=)
c.2528-501T>G (n.2528-501T>G)
 ClinVar dbSNP
2g.189007553T=CA1315404822COL3A1c.3210T= (p.Ala1070=)
c.3309T= (p.Ala1103=)
c.2528-501T= (n.2528-501T=)
2g.189007554G>ACA349845750COL3A1c.3211G>A (p.Gly1071Ser)
c.3310G>A (p.Gly1104Ser)
c.2528-500G>A (n.2528-500G>A)
2g.189007554G>CCA349845752COL3A1c.3211G>C (p.Gly1071Arg)
c.3310G>C (p.Gly1104Arg)
c.2528-500G>C (n.2528-500G>C)
2g.189007554G>TCA349845753COL3A1c.3211G>T (p.Gly1071Cys)
c.3310G>T (p.Gly1104Cys)
c.2528-500G>T (n.2528-500G>T)
2g.189007555G>ACA349845754COL3A1c.3212G>A (p.Gly1071Asp)
c.3311G>A (p.Gly1104Asp)
c.2528-499G>A (n.2528-499G>A)
2g.189007555G>CCA349845755COL3A1c.3212G>C (p.Gly1071Ala)
c.3311G>C (p.Gly1104Ala)
c.2528-499G>C (n.2528-499G>C)
 gnomAD v4
2g.189007555G>TCA349845756COL3A1c.3212G>T (p.Gly1071Val)
c.3311G>T (p.Gly1104Val)
c.2528-499G>T (n.2528-499G>T)
2g.189007556C>ACA430313301COL3A1c.3213C>A (p.Gly1071=)
c.3312C>A (p.Gly1104=)
c.2528-498C>A (n.2528-498C>A)
2g.189007556C=CA1315404823COL3A1c.3213C= (p.Gly1071=)
c.3312C= (p.Gly1104=)
c.2528-498C= (n.2528-498C=)
2g.189007556C>GCA076002COL3A1c.3213C>G (p.Gly1071=)
c.3312C>G (p.Gly1104=)
c.2528-498C>G (n.2528-498C>G)
 dbSNP ExAC
2g.189007556C>TCA430313299COL3A1c.3213C>T (p.Gly1071=)
c.3312C>T (p.Gly1104=)
c.2528-498C>T (n.2528-498C>T)
 ClinVar dbSNP
2g.189007557A>CCA349845759COL3A1c.3214A>C (p.Ile1072Leu)
c.3313A>C (p.Ile1105Leu)
c.2528-497A>C (n.2528-497A>C)
 gnomAD v4
2g.189007557A>GCA349845758COL3A1c.3214A>G (p.Ile1072Val)
c.3313A>G (p.Ile1105Val)
c.2528-497A>G (n.2528-497A>G)
 ClinVar
2g.189007557A>TCA349845757COL3A1c.3214A>T (p.Ile1072Phe)
c.3313A>T (p.Ile1105Phe)
c.2528-497A>T (n.2528-497A>T)
2g.189007558T>ACA349845762COL3A1c.3215T>A (p.Ile1072Asn)
c.3314T>A (p.Ile1105Asn)
c.2528-496T>A (n.2528-496T>A)
2g.189007558T>CCA349845764COL3A1c.3215T>C (p.Ile1072Thr)
c.3314T>C (p.Ile1105Thr)
c.2528-496T>C (n.2528-496T>C)
2g.189007558T>GCA349845766COL3A1c.3215T>G (p.Ile1072Ser)
c.3314T>G (p.Ile1105Ser)
c.2528-496T>G (n.2528-496T>G)
 ClinVar dbSNP
2g.189007558T=CA1315404824COL3A1c.3215T= (p.Ile1072=)
c.3314T= (p.Ile1105=)
c.2528-496T= (n.2528-496T=)
2g.189007559C>ACA430313305COL3A1c.3216C>A (p.Ile1072=)
c.3315C>A (p.Ile1105=)
c.2528-495C>A (n.2528-495C>A)
2g.189007559C>GCA349845769COL3A1c.3216C>G (p.Ile1072Met)
c.3315C>G (p.Ile1105Met)
c.2528-495C>G (n.2528-495C>G)
2g.189007559C>TCA430313304COL3A1c.3216C>T (p.Ile1072=)
c.3315C>T (p.Ile1105=)
c.2528-495C>T (n.2528-495C>T)
 COSMIC
2g.189007560A>CCA349845771COL3A1c.3217A>C (p.Lys1073Gln)
c.3316A>C (p.Lys1106Gln)
c.2528-494A>C (n.2528-494A>C)
2g.189007560A>GCA349845773COL3A1c.3217A>G (p.Lys1073Glu)
c.3316A>G (p.Lys1106Glu)
c.2528-494A>G (n.2528-494A>G)
2g.189007560A>TCA349845776COL3A1c.3217A>T (p.Lys1073Ter)
c.3316A>T (p.Lys1106Ter)
c.2528-494A>T (n.2528-494A>T)
2g.189007561A=CA1315404825COL3A1c.3218A= (p.Lys1073=)
c.3317A= (p.Lys1106=)
c.2528-493A= (n.2528-493A=)
2g.189007561A>CCA349845777COL3A1c.3218A>C (p.Lys1073Thr)
c.3317A>C (p.Lys1106Thr)
c.2528-493A>C (n.2528-493A>C)
 gnomAD v4
2g.189007561A>GCA349845779COL3A1c.3218A>G (p.Lys1073Arg)
c.3317A>G (p.Lys1106Arg)
c.2528-493A>G (n.2528-493A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007561A>TCA349845780COL3A1c.3218A>T (p.Lys1073Ile)
c.3317A>T (p.Lys1106Ile)
c.2528-493A>T (n.2528-493A>T)
2g.189007562A>CCA349845783COL3A1c.3219A>C (p.Lys1073Asn)
c.3318A>C (p.Lys1106Asn)
c.2528-492A>C (n.2528-492A>C)
2g.189007562A>GCA430313307COL3A1c.3219A>G (p.Lys1073=)
c.3318A>G (p.Lys1106=)
c.2528-492A>G (n.2528-492A>G)
2g.189007562A>TCA349845785COL3A1c.3219A>T (p.Lys1073Asn)
c.3318A>T (p.Lys1106Asn)
c.2528-492A>T (n.2528-492A>T)
2g.189007563G>ACA006301COL3A1c.3220G>A (p.Gly1074Arg)
c.3319G>A (p.Gly1107Arg)
c.2528-491G>A (n.2528-491G>A)
 ClinVar dbSNP
2g.189007563G>CCA349845789COL3A1c.3220G>C (p.Gly1074Arg)
c.3319G>C (p.Gly1107Arg)
c.2528-491G>C (n.2528-491G>C)
2g.189007563G=CA1315404826COL3A1c.3220G= (p.Gly1074=)
c.3319G= (p.Gly1107=)
c.2528-491G= (n.2528-491G=)
2g.189007563G>TCA349845788COL3A1c.3220G>T (p.Gly1074Ter)
c.3319G>T (p.Gly1107Ter)
c.2528-491G>T (n.2528-491G>T)
2g.189007564G>ACA349845793COL3A1c.3221G>A (p.Gly1074Glu)
c.3320G>A (p.Gly1107Glu)
c.2528-490G>A (n.2528-490G>A)
 COSMIC
2g.189007564G>CCA349845794COL3A1c.3221G>C (p.Gly1074Ala)
c.3320G>C (p.Gly1107Ala)
c.2528-490G>C (n.2528-490G>C)
2g.189007564G>TCA349845797COL3A1c.3221G>T (p.Gly1074Val)
c.3320G>T (p.Gly1107Val)
c.2528-490G>T (n.2528-490G>T)
2g.189007565A=CA1315404827COL3A1c.3222A= (p.Gly1074=)
c.3321A= (p.Gly1107=)
c.2528-489A= (n.2528-489A=)
2g.189007565A>CCA430313309COL3A1c.3222A>C (p.Gly1074=)
c.3321A>C (p.Gly1107=)
c.2528-489A>C (n.2528-489A>C)
 gnomAD v4
2g.189007565A>GCA430313310COL3A1c.3222A>G (p.Gly1074=)
c.3321A>G (p.Gly1107=)
c.2528-489A>G (n.2528-489A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007565A>TCA430313311COL3A1c.3222A>T (p.Gly1074=)
c.3321A>T (p.Gly1107=)
c.2528-489A>T (n.2528-489A>T)
2g.189007566C>ACA349845798COL3A1c.3223C>A (p.His1075Asn)
c.3322C>A (p.His1108Asn)
c.2528-488C>A (n.2528-488C>A)
2g.189007566C>GCA349845800COL3A1c.3223C>G (p.His1075Asp)
c.3322C>G (p.His1108Asp)
c.2528-488C>G (n.2528-488C>G)
2g.189007566C>TCA349845801COL3A1c.3223C>T (p.His1075Tyr)
c.3322C>T (p.His1108Tyr)
c.2528-488C>T (n.2528-488C>T)
2g.189007567A=CA1315404828COL3A1c.3224A= (p.His1075=)
c.3323A= (p.His1108=)
c.2528-487A= (n.2528-487A=)
2g.189007567A>CCA349845803COL3A1c.3224A>C (p.His1075Pro)
c.3323A>C (p.His1108Pro)
c.2528-487A>C (n.2528-487A>C)
2g.189007567A>GCA349845804COL3A1c.3224A>G (p.His1075Arg)
c.3323A>G (p.His1108Arg)
c.2528-487A>G (n.2528-487A>G)
 ClinVar dbSNP gnomAD v4
2g.189007567A>TCA349845806COL3A1c.3224A>T (p.His1075Leu)
c.3323A>T (p.His1108Leu)
c.2528-487A>T (n.2528-487A>T)
2g.189007568T>ACA349845808COL3A1c.3225T>A (p.His1075Gln)
c.3324T>A (p.His1108Gln)
c.2528-486T>A (n.2528-486T>A)
2g.189007568T>CCA430313313COL3A1c.3225T>C (p.His1075=)
c.3324T>C (p.His1108=)
c.2528-486T>C (n.2528-486T>C)
2g.189007568T>GCA349845809COL3A1c.3225T>G (p.His1075Gln)
c.3324T>G (p.His1108Gln)
c.2528-486T>G (n.2528-486T>G)
2g.189007569C>ACA430313314COL3A1c.3226C>A (p.Arg1076=)
c.3325C>A (p.Arg1109=)
c.2528-485C>A (n.2528-485C>A)
 dbSNP
2g.189007569C=CA1315404829COL3A1c.3226C= (p.Arg1076=)
c.3325C= (p.Arg1109=)
c.2528-485C= (n.2528-485C=)
2g.189007569C>GCA006308COL3A1c.3226C>G (p.Arg1076Gly)
c.3325C>G (p.Arg1109Gly)
c.2528-485C>G (n.2528-485C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007569C>TCA006314COL3A1c.3226C>T (p.Arg1076Ter)
c.3325C>T (p.Arg1109Ter)
c.2528-485C>T (n.2528-485C>T)
 ClinVar dbSNP COSMIC
2g.189007570G>ACA006320COL3A1c.3227G>A (p.Arg1076Gln)
c.3326G>A (p.Arg1109Gln)
c.2528-484G>A (n.2528-484G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189007570G>CCA349845816COL3A1c.3227G>C (p.Arg1076Pro)
c.3326G>C (p.Arg1109Pro)
c.2528-484G>C (n.2528-484G>C)
 ClinVar dbSNP gnomAD v4
2g.189007570G=CA1315404830COL3A1c.3227G= (p.Arg1076=)
c.3326G= (p.Arg1109=)
c.2528-484G= (n.2528-484G=)
2g.189007570G>TCA349845814COL3A1c.3227G>T (p.Arg1076Leu)
c.3326G>T (p.Arg1109Leu)
c.2528-484G>T (n.2528-484G>T)
2g.189007571A>CCA430313316COL3A1c.3228A>C (p.Arg1076=)
c.3327A>C (p.Arg1109=)
c.2528-483A>C (n.2528-483A>C)
2g.189007571A>GCA430313317COL3A1c.3228A>G (p.Arg1076=)
c.3327A>G (p.Arg1109=)
c.2528-483A>G (n.2528-483A>G)
2g.189007571A>TCA430313318COL3A1c.3228A>T (p.Arg1076=)
c.3327A>T (p.Arg1109=)
c.2528-483A>T (n.2528-483A>T)
2g.189007571_189007579delinsAGGATTCCCCA1315404831COL3A1c.3228_3236delinsAGGATTCCC (p.Arg1076=)
c.3327_3335delinsAGGATTCCC (p.Arg1109=)
c.2528-483_2528-475delinsAGGATTCCC (n.2528-483_2528-475delinsAGGATTCCC)
2g.189007572G>ACA349845822COL3A1c.3229G>A (p.Gly1077Arg)
c.3328G>A (p.Gly1110Arg)
c.2528-482G>A (n.2528-482G>A)
2g.189007572G>CCA349845819COL3A1c.3229G>C (p.Gly1077Arg)
c.3328G>C (p.Gly1110Arg)
c.2528-482G>C (n.2528-482G>C)
2g.189007572G>TCA349845821COL3A1c.3229G>T (p.Gly1077Ter)
c.3328G>T (p.Gly1110Ter)
c.2528-482G>T (n.2528-482G>T)
2g.189007572_189007579delCA1315404832COL3A1c.3229_3236del (p.Gly1077TrpfsTer2)
c.3328_3335del (p.Gly1110TrpfsTer2)
c.2528-482_2528-475del (n.2528-482_2528-475del)
 dbSNP
2g.189007573G>ACA006327COL3A1c.3230G>A (p.Gly1077Glu)
c.3329G>A (p.Gly1110Glu)
c.2528-481G>A (n.2528-481G>A)
 ClinVar dbSNP COSMIC
2g.189007573G>CCA349845826COL3A1c.3230G>C (p.Gly1077Ala)
c.3329G>C (p.Gly1110Ala)
c.2528-481G>C (n.2528-481G>C)
2g.189007573G=CA1315404833COL3A1c.3230G= (p.Gly1077=)
c.3329G= (p.Gly1110=)
c.2528-481G= (n.2528-481G=)
2g.189007573G>TCA349845829COL3A1c.3230G>T (p.Gly1077Val)
c.3329G>T (p.Gly1110Val)
c.2528-481G>T (n.2528-481G>T)
2g.189007574A=CA1315404834COL3A1c.3231A= (p.Gly1077=)
c.3330A= (p.Gly1110=)
c.2528-480A= (n.2528-480A=)
2g.189007574A>CCA430313320COL3A1c.3231A>C (p.Gly1077=)
c.3330A>C (p.Gly1110=)
c.2528-480A>C (n.2528-480A>C)
2g.189007574A>GCA430313321COL3A1c.3231A>G (p.Gly1077=)
c.3330A>G (p.Gly1110=)
c.2528-480A>G (n.2528-480A>G)
2g.189007574A>TCA430313322COL3A1c.3231A>T (p.Gly1077=)
c.3330A>T (p.Gly1110=)
c.2528-480A>T (n.2528-480A>T)
 dbSNP
2g.189007575T>ACA349845831COL3A1c.3232T>A (p.Phe1078Ile)
c.3331T>A (p.Phe1111Ile)
c.2528-479T>A (n.2528-479T>A)
2g.189007575T>CCA349845833COL3A1c.3232T>C (p.Phe1078Leu)
c.3331T>C (p.Phe1111Leu)
c.2528-479T>C (n.2528-479T>C)
2g.189007575T>GCA349845836COL3A1c.3232T>G (p.Phe1078Val)
c.3331T>G (p.Phe1111Val)
c.2528-479T>G (n.2528-479T>G)
2g.189007576T>ACA349845837COL3A1c.3233T>A (p.Phe1078Tyr)
c.3332T>A (p.Phe1111Tyr)
c.2528-478T>A (n.2528-478T>A)
 gnomAD v4
2g.189007576T>CCA349845839COL3A1c.3233T>C (p.Phe1078Ser)
c.3332T>C (p.Phe1111Ser)
c.2528-478T>C (n.2528-478T>C)
2g.189007576T>GCA349845842COL3A1c.3233T>G (p.Phe1078Cys)
c.3332T>G (p.Phe1111Cys)
c.2528-478T>G (n.2528-478T>G)
2g.189007577C>ACA349845844COL3A1c.3234C>A (p.Phe1078Leu)
c.3333C>A (p.Phe1111Leu)
c.2528-477C>A (n.2528-477C>A)
 ClinVar dbSNP gnomAD v4
2g.189007577C=CA1315404835COL3A1c.3234C= (p.Phe1078=)
c.3333C= (p.Phe1111=)
c.2528-477C= (n.2528-477C=)
2g.189007577C>GCA349845846COL3A1c.3234C>G (p.Phe1078Leu)
c.3333C>G (p.Phe1111Leu)
c.2528-477C>G (n.2528-477C>G)
2g.189007577C>TCA430313324COL3A1c.3234C>T (p.Phe1078=)
c.3333C>T (p.Phe1111=)
c.2528-477C>T (n.2528-477C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007578C>ACA349845852COL3A1c.3235C>A (p.Pro1079Thr)
c.3334C>A (p.Pro1112Thr)
c.2528-476C>A (n.2528-476C>A)
2g.189007578C>GCA349845851COL3A1c.3235C>G (p.Pro1079Ala)
c.3334C>G (p.Pro1112Ala)
c.2528-476C>G (n.2528-476C>G)
2g.189007578C>TCA349845848COL3A1c.3235C>T (p.Pro1079Ser)
c.3334C>T (p.Pro1112Ser)
c.2528-476C>T (n.2528-476C>T)
 COSMIC
2g.189007579C>ACA349845855COL3A1c.3236C>A (p.Pro1079His)
c.3335C>A (p.Pro1112His)
c.2528-475C>A (n.2528-475C>A)
 gnomAD v4
2g.189007579C>GCA349845857COL3A1c.3236C>G (p.Pro1079Arg)
c.3335C>G (p.Pro1112Arg)
c.2528-475C>G (n.2528-475C>G)
2g.189007579C>TCA349845859COL3A1c.3236C>T (p.Pro1079Leu)
c.3335C>T (p.Pro1112Leu)
c.2528-475C>T (n.2528-475C>T)
 gnomAD v4
2g.189007580T>ACA430313327COL3A1c.3237T>A (p.Pro1079=)
c.3336T>A (p.Pro1112=)
c.2528-474T>A (n.2528-474T>A)
2g.189007580T>CCA076020COL3A1c.3237T>C (p.Pro1079=)
c.3336T>C (p.Pro1112=)
c.2528-474T>C (n.2528-474T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007580T>GCA430313328COL3A1c.3237T>G (p.Pro1079=)
c.3336T>G (p.Pro1112=)
c.2528-474T>G (n.2528-474T>G)
2g.189007580T=CA1315404836COL3A1c.3237T= (p.Pro1079=)
c.3336T= (p.Pro1112=)
c.2528-474T= (n.2528-474T=)
2g.189007581G>ACA349845863COL3A1c.3238G>A (p.Gly1080Ser)
c.3337G>A (p.Gly1113Ser)
c.2528-473G>A (n.2528-473G>A)
2g.189007581G>CCA349845865COL3A1c.3238G>C (p.Gly1080Arg)
c.3337G>C (p.Gly1113Arg)
c.2528-473G>C (n.2528-473G>C)
2g.189007581G>TCA349845866COL3A1c.3238G>T (p.Gly1080Cys)
c.3337G>T (p.Gly1113Cys)
c.2528-473G>T (n.2528-473G>T)
 gnomAD v4
2g.189007582G>ACA349845867COL3A1c.3239G>A (p.Gly1080Asp)
c.3338G>A (p.Gly1113Asp)
c.2528-472G>A (n.2528-472G>A)
 ClinVar
2g.189007582G>CCA349845869COL3A1c.3239G>C (p.Gly1080Ala)
c.3338G>C (p.Gly1113Ala)
c.2528-472G>C (n.2528-472G>C)
2g.189007582G>TCA349845871COL3A1c.3239G>T (p.Gly1080Val)
c.3338G>T (p.Gly1113Val)
c.2528-472G>T (n.2528-472G>T)
2g.189007582_189007620delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCACA1315404837COL3A1c.3239_3264+13delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA
c.3338_3363+13delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA
c.2528-472_2528-434delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA (n.2528-472_2528-434delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA)
2g.189007583T>ACA430313330COL3A1c.3240T>A (p.Gly1080=)
c.3339T>A (p.Gly1113=)
c.2528-471T>A (n.2528-471T>A)
2g.189007583T>CCA430313331COL3A1c.3240T>C (p.Gly1080=)
c.3339T>C (p.Gly1113=)
c.2528-471T>C (n.2528-471T>C)
 dbSNP
2g.189007583T>GCA430313332COL3A1c.3240T>G (p.Gly1080=)
c.3339T>G (p.Gly1113=)
c.2528-471T>G (n.2528-471T>G)
2g.189007583T=CA1315404839COL3A1c.3240T= (p.Gly1080=)
c.3339T= (p.Gly1113=)
c.2528-471T= (n.2528-471T=)
2g.189007584_189007621delCA1315404838COL3A1c.3241_3264+14del
c.3340_3363+14del
c.2528-470_2528-433del (n.2528-470_2528-433del)
 dbSNP
2g.189007584A>CCA349845873COL3A1c.3241A>C (p.Asn1081His)
c.3340A>C (p.Asn1114His)
c.2528-470A>C (n.2528-470A>C)
2g.189007584A>GCA349845876COL3A1c.3241A>G (p.Asn1081Asp)
c.3340A>G (p.Asn1114Asp)
c.2528-470A>G (n.2528-470A>G)
2g.189007584A>TCA349845878COL3A1c.3241A>T (p.Asn1081Tyr)
c.3340A>T (p.Asn1114Tyr)
c.2528-470A>T (n.2528-470A>T)
2g.189007585A>CCA349845881COL3A1c.3242A>C (p.Asn1081Thr)
c.3341A>C (p.Asn1114Thr)
c.2528-469A>C (n.2528-469A>C)
2g.189007585A>GCA349845882COL3A1c.3242A>G (p.Asn1081Ser)
c.3341A>G (p.Asn1114Ser)
c.2528-469A>G (n.2528-469A>G)
 ClinVar
2g.189007585A>TCA349845880COL3A1c.3242A>T (p.Asn1081Ile)
c.3341A>T (p.Asn1114Ile)
c.2528-469A>T (n.2528-469A>T)
2g.189007586T>ACA349845884COL3A1c.3243T>A (p.Asn1081Lys)
c.3342T>A (p.Asn1114Lys)
c.2528-468T>A (n.2528-468T>A)
2g.189007586T>CCA430313334COL3A1c.3243T>C (p.Asn1081=)
c.3342T>C (p.Asn1114=)
c.2528-468T>C (n.2528-468T>C)
2g.189007586T>GCA349845886COL3A1c.3243T>G (p.Asn1081Lys)
c.3342T>G (p.Asn1114Lys)
c.2528-468T>G (n.2528-468T>G)
2g.189007587C>ACA349845888COL3A1c.3244C>A (p.Pro1082Thr)
c.3343C>A (p.Pro1115Thr)
c.2528-467C>A (n.2528-467C>A)
 gnomAD v4
2g.189007587C>GCA349845890COL3A1c.3244C>G (p.Pro1082Ala)
c.3343C>G (p.Pro1115Ala)
c.2528-467C>G (n.2528-467C>G)
2g.189007587C>TCA349845892COL3A1c.3244C>T (p.Pro1082Ser)
c.3343C>T (p.Pro1115Ser)
c.2528-467C>T (n.2528-467C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007588C>ACA349845894COL3A1c.3245C>A (p.Pro1082Gln)
c.3344C>A (p.Pro1115Gln)
c.2528-466C>A (n.2528-466C>A)
2g.189007588C=CA1315404840COL3A1c.3245C= (p.Pro1082=)
c.3344C= (p.Pro1115=)
c.2528-466C= (n.2528-466C=)
2g.189007588C>GCA349845896COL3A1c.3245C>G (p.Pro1082Arg)
c.3344C>G (p.Pro1115Arg)
c.2528-466C>G (n.2528-466C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007588C>TCA349845898COL3A1c.3245C>T (p.Pro1082Leu)
c.3344C>T (p.Pro1115Leu)
c.2528-466C>T (n.2528-466C>T)
2g.189007589A=CA1315404841COL3A1c.3246A= (p.Pro1082=)
c.3345A= (p.Pro1115=)
c.2528-465A= (n.2528-465A=)
2g.189007589A>CCA430313337COL3A1c.3246A>C (p.Pro1082=)
c.3345A>C (p.Pro1115=)
c.2528-465A>C (n.2528-465A>C)
2g.189007589A>GCA62561442COL3A1c.3246A>G (p.Pro1082=)
c.3345A>G (p.Pro1115=)
c.2528-465A>G (n.2528-465A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189007589A>TCA430313338COL3A1c.3246A>T (p.Pro1082=)
c.3345A>T (p.Pro1115=)
c.2528-465A>T (n.2528-465A>T)
2g.189007590G>ACA349845900COL3A1c.3247G>A (p.Gly1083Ser)
c.3346G>A (p.Gly1116Ser)
c.2528-464G>A (n.2528-464G>A)
2g.189007590G>CCA349845903COL3A1c.3247G>C (p.Gly1083Arg)
c.3346G>C (p.Gly1116Arg)
c.2528-464G>C (n.2528-464G>C)
2g.189007590G>TCA349845904COL3A1c.3247G>T (p.Gly1083Cys)
c.3346G>T (p.Gly1116Cys)
c.2528-464G>T (n.2528-464G>T)
2g.189007591G>ACA349845909COL3A1c.3248G>A (p.Gly1083Asp)
c.3347G>A (p.Gly1116Asp)
c.2528-463G>A (n.2528-463G>A)
2g.189007591G>CCA349845907COL3A1c.3248G>C (p.Gly1083Ala)
c.3347G>C (p.Gly1116Ala)
c.2528-463G>C (n.2528-463G>C)
2g.189007591G=CA1315404842COL3A1c.3248G= (p.Gly1083=)
c.3347G= (p.Gly1116=)
c.2528-463G= (n.2528-463G=)
2g.189007591G>TCA006333COL3A1c.3248G>T (p.Gly1083Val)
c.3347G>T (p.Gly1116Val)
c.2528-463G>T (n.2528-463G>T)
 ClinVar dbSNP
2g.189007592T>ACA430313340COL3A1c.3249T>A (p.Gly1083=)
c.3348T>A (p.Gly1116=)
c.2528-462T>A (n.2528-462T>A)
2g.189007592T>CCA430313341COL3A1c.3249T>C (p.Gly1083=)
c.3348T>C (p.Gly1116=)
c.2528-462T>C (n.2528-462T>C)
2g.189007592T>GCA430313342COL3A1c.3249T>G (p.Gly1083=)
c.3348T>G (p.Gly1116=)
c.2528-462T>G (n.2528-462T>G)
2g.189007593G>ACA349845911COL3A1c.3250G>A (p.Ala1084Thr)
c.3349G>A (p.Ala1117Thr)
c.2528-461G>A (n.2528-461G>A)
2g.189007593G>CCA349845913COL3A1c.3250G>C (p.Ala1084Pro)
c.3349G>C (p.Ala1117Pro)
c.2528-461G>C (n.2528-461G>C)
 dbSNP
2g.189007593G=CA1315404843COL3A1c.3250G= (p.Ala1084=)
c.3349G= (p.Ala1117=)
c.2528-461G= (n.2528-461G=)
2g.189007593G>TCA076030COL3A1c.3250G>T (p.Ala1084Ser)
c.3349G>T (p.Ala1117Ser)
c.2528-461G>T (n.2528-461G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007594C>ACA349845917COL3A1c.3251C>A (p.Ala1084Asp)
c.3350C>A (p.Ala1117Asp)
c.2528-460C>A (n.2528-460C>A)
2g.189007594C>GCA349845919COL3A1c.3251C>G (p.Ala1084Gly)
c.3350C>G (p.Ala1117Gly)
c.2528-460C>G (n.2528-460C>G)
2g.189007594C>TCA349845921COL3A1c.3251C>T (p.Ala1084Val)
c.3350C>T (p.Ala1117Val)
c.2528-460C>T (n.2528-460C>T)
 dbSNP
2g.189007597delCA2701312139COL3A1c.3254del (p.Pro1085GlnfsTer?)
c.3353del (p.Pro1118GlnfsTer?)
c.2528-457del (n.2528-457del)
 dbSNP
2g.189007595C>ACA430313344COL3A1c.3252C>A (p.Ala1084=)
c.3351C>A (p.Ala1117=)
c.2528-459C>A (n.2528-459C>A)
2g.189007595C>GCA430313345COL3A1c.3252C>G (p.Ala1084=)
c.3351C>G (p.Ala1117=)
c.2528-459C>G (n.2528-459C>G)
2g.189007595C>TCA430313346COL3A1c.3252C>T (p.Ala1084=)
c.3351C>T (p.Ala1117=)
c.2528-459C>T (n.2528-459C>T)
 dbSNP
2g.189007596C>ACA349845924COL3A1c.3253C>A (p.Pro1085Thr)
c.3352C>A (p.Pro1118Thr)
c.2528-458C>A (n.2528-458C>A)
 gnomAD v4
2g.189007596C=CA1315404844COL3A1c.3253C= (p.Pro1085=)
c.3352C= (p.Pro1118=)
c.2528-458C= (n.2528-458C=)
2g.189007596C>GCA349845926COL3A1c.3253C>G (p.Pro1085Ala)
c.3352C>G (p.Pro1118Ala)
c.2528-458C>G (n.2528-458C>G)
2g.189007596C>TCA076033COL3A1c.3253C>T (p.Pro1085Ser)
c.3352C>T (p.Pro1118Ser)
c.2528-458C>T (n.2528-458C>T)
 dbSNP ExAC
2g.189007597C>ACA349845930COL3A1c.3254C>A (p.Pro1085Gln)
c.3353C>A (p.Pro1118Gln)
c.2528-457C>A (n.2528-457C>A)
2g.189007597C=CA1315404845COL3A1c.3254C= (p.Pro1085=)
c.3353C= (p.Pro1118=)
c.2528-457C= (n.2528-457C=)
2g.189007597C>GCA349845932COL3A1c.3254C>G (p.Pro1085Arg)
c.3353C>G (p.Pro1118Arg)
c.2528-457C>G (n.2528-457C>G)
2g.189007597C>TCA076035COL3A1c.3254C>T (p.Pro1085Leu)
c.3353C>T (p.Pro1118Leu)
c.2528-457C>T (n.2528-457C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189007598A>CCA430313349COL3A1c.3255A>C (p.Pro1085=)
c.3354A>C (p.Pro1118=)
c.2528-456A>C (n.2528-456A>C)
2g.189007598A>GCA430313350COL3A1c.3255A>G (p.Pro1085=)
c.3354A>G (p.Pro1118=)
c.2528-456A>G (n.2528-456A>G)
 gnomAD v4
2g.189007598A>TCA430313351COL3A1c.3255A>T (p.Pro1085=)
c.3354A>T (p.Pro1118=)
c.2528-456A>T (n.2528-456A>T)
2g.189007599G>ACA349845938COL3A1c.3256G>A (p.Gly1086Ser)
c.3355G>A (p.Gly1119Ser)
c.2528-455G>A (n.2528-455G>A)
2g.189007599G>CCA349845939COL3A1c.3256G>C (p.Gly1086Arg)
c.3355G>C (p.Gly1119Arg)
c.2528-455G>C (n.2528-455G>C)
2g.189007599G>TCA349845936COL3A1c.3256G>T (p.Gly1086Cys)
c.3355G>T (p.Gly1119Cys)
c.2528-455G>T (n.2528-455G>T)
2g.189007600G>ACA006338COL3A1c.3257G>A (p.Gly1086Asp)
c.3356G>A (p.Gly1119Asp)
c.2528-454G>A (n.2528-454G>A)
 ClinVar dbSNP
2g.189007600G>CCA349845942COL3A1c.3257G>C (p.Gly1086Ala)
c.3356G>C (p.Gly1119Ala)
c.2528-454G>C (n.2528-454G>C)
2g.189007600G=CA1315404846COL3A1c.3257G= (p.Gly1086=)
c.3356G= (p.Gly1119=)
c.2528-454G= (n.2528-454G=)
2g.189007600G>TCA349845944COL3A1c.3257G>T (p.Gly1086Val)
c.3356G>T (p.Gly1119Val)
c.2528-454G>T (n.2528-454G>T)
2g.189007601T>ACA430313353COL3A1c.3258T>A (p.Gly1086=)
c.3357T>A (p.Gly1119=)
c.2528-453T>A (n.2528-453T>A)
2g.189007601T>CCA076037COL3A1c.3258T>C (p.Gly1086=)
c.3357T>C (p.Gly1119=)
c.2528-453T>C (n.2528-453T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007601T>GCA430313355COL3A1c.3258T>G (p.Gly1086=)
c.3357T>G (p.Gly1119=)
c.2528-453T>G (n.2528-453T>G)
2g.189007601T=CA1315404847COL3A1c.3258T= (p.Gly1086=)
c.3357T= (p.Gly1119=)
c.2528-453T= (n.2528-453T=)
2g.189007602T>ACA349845948COL3A1c.3259T>A (p.Ser1087Thr)
c.3358T>A (p.Ser1120Thr)
c.2528-452T>A (n.2528-452T>A)
2g.189007602T>CCA349845950COL3A1c.3259T>C (p.Ser1087Pro)
c.3358T>C (p.Ser1120Pro)
c.2528-452T>C (n.2528-452T>C)
2g.189007602T>GCA349845952COL3A1c.3259T>G (p.Ser1087Ala)
c.3358T>G (p.Ser1120Ala)
c.2528-452T>G (n.2528-452T>G)
2g.189007603C>ACA349845954COL3A1c.3260C>A (p.Ser1087Tyr)
c.3359C>A (p.Ser1120Tyr)
c.2528-451C>A (n.2528-451C>A)
2g.189007603C=CA1315404848COL3A1c.3260C= (p.Ser1087=)
c.3359C= (p.Ser1120=)
c.2528-451C= (n.2528-451C=)
2g.189007603C>GCA349845957COL3A1c.3260C>G (p.Ser1087Cys)
c.3359C>G (p.Ser1120Cys)
c.2528-451C>G (n.2528-451C>G)
2g.189007603C>TCA349845959COL3A1c.3260C>T (p.Ser1087Phe)
c.3359C>T (p.Ser1120Phe)
c.2528-451C>T (n.2528-451C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189007604T>ACA430313358COL3A1c.3261T>A (p.Ser1087=)
c.3360T>A (p.Ser1120=)
c.2528-450T>A (n.2528-450T>A)
2g.189007604T>CCA430313359COL3A1c.3261T>C (p.Ser1087=)
c.3360T>C (p.Ser1120=)
c.2528-450T>C (n.2528-450T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189007604T>GCA430313360COL3A1c.3261T>G (p.Ser1087=)
c.3360T>G (p.Ser1120=)
c.2528-450T>G (n.2528-450T>G)
2g.189007604T=CA1315404849COL3A1c.3261T= (p.Ser1087=)
c.3360T= (p.Ser1120=)
c.2528-450T= (n.2528-450T=)
2g.189007605C>ACA349845962COL3A1c.3262C>A (p.Pro1088Thr)
c.3361C>A (p.Pro1121Thr)
c.2528-449C>A (n.2528-449C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189007605C=CA1315404850COL3A1c.3262C= (p.Pro1088=)
c.3361C= (p.Pro1121=)
c.2528-449C= (n.2528-449C=)
2g.189007605C>GCA349845963COL3A1c.3262C>G (p.Pro1088Ala)
c.3361C>G (p.Pro1121Ala)
c.2528-449C>G (n.2528-449C>G)
 ClinVar gnomAD v4
2g.189007605C>TCA349845965COL3A1c.3262C>T (p.Pro1088Ser)
c.3361C>T (p.Pro1121Ser)
c.2528-449C>T (n.2528-449C>T)
2g.189007606C>ACA349845970COL3A1c.3263C>A (p.Pro1088Gln)
c.3362C>A (p.Pro1121Gln)
c.2528-448C>A (n.2528-448C>A)
 gnomAD v4
2g.189007606C=CA1315404851COL3A1c.3263C= (p.Pro1088=)
c.3362C= (p.Pro1121=)
c.2528-448C= (n.2528-448C=)
2g.189007606C>GCA349845973COL3A1c.3263C>G (p.Pro1088Arg)
c.3362C>G (p.Pro1121Arg)
c.2528-448C>G (n.2528-448C>G)
2g.189007606C>TCA349845968COL3A1c.3263C>T (p.Pro1088Leu)
c.3362C>T (p.Pro1121Leu)
c.2528-448C>T (n.2528-448C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007607A=CA1315404852COL3A1c.3264A= (p.Pro1088=)
c.3363A= (p.Pro1121=)
c.2528-447A= (n.2528-447A=)
2g.189007607A>CCA430313361COL3A1c.3264A>C (p.Pro1088=)
c.3363A>C (p.Pro1121=)
c.2528-447A>C (n.2528-447A>C)
2g.189007607A>GCA430313362COL3A1c.3264A>G (p.Pro1088=)
c.3363A>G (p.Pro1121=)
c.2528-447A>G (n.2528-447A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189007607A>TCA430313363COL3A1c.3264A>T (p.Pro1088=)
c.3363A>T (p.Pro1121=)
c.2528-447A>T (n.2528-447A>T)
 gnomAD v4
2g.189007608G>ACA349845974COL3A1c.3264+1G>A (n.3264+1G>A)
c.3363+1G>A (n.3363+1G>A)
c.2528-446G>A (n.2528-446G>A)
2g.189007608G>CCA349845975COL3A1c.3264+1G>C (n.3264+1G>C)
c.3363+1G>C (n.3363+1G>C)
c.2528-446G>C (n.2528-446G>C)
2g.189007608G>TCA349845976COL3A1c.3264+1G>T (n.3264+1G>T)
c.3363+1G>T (n.3363+1G>T)
c.2528-446G>T (n.2528-446G>T)
2g.189007609T>ACA349845979COL3A1c.3264+2T>A (n.3264+2T>A)
c.3363+2T>A (n.3363+2T>A)
c.2528-445T>A (n.2528-445T>A)
2g.189007609T>CCA349845980COL3A1c.3264+2T>C (n.3264+2T>C)
c.3363+2T>C (n.3363+2T>C)
c.2528-445T>C (n.2528-445T>C)
2g.189007609T>GCA349845982COL3A1c.3264+2T>G (n.3264+2T>G)
c.3363+2T>G (n.3363+2T>G)
c.2528-445T>G (n.2528-445T>G)
2g.189007610A>GCA2662310860COL3A1c.3264+3A>G (n.3264+3A>G)
c.3363+3A>G (n.3363+3A>G)
c.2528-444A>G (n.2528-444A>G)
 gnomAD v4
2g.189007611A>CCA2697551452COL3A1c.3264+4A>C (n.3264+4A>C)
c.3363+4A>C (n.3363+4A>C)
c.2528-443A>C (n.2528-443A>C)
 ClinVar
2g.189007613T>CCA2662310861COL3A1c.3264+6T>C (n.3264+6T>C)
c.3363+6T>C (n.3363+6T>C)
c.2528-441T>C (n.2528-441T>C)
 gnomAD v4
2g.189007615delCA2662310862COL3A1c.3264+8del (n.3264+8del)
c.3363+8del (n.3363+8del)
c.2528-439del (n.2528-439del)
 gnomAD v4
2g.189007615C>ACA2662310863COL3A1c.3264+8C>A (n.3264+8C>A)
c.3363+8C>A (n.3363+8C>A)
c.2528-439C>A (n.2528-439C>A)
 gnomAD v4
2g.189007616A=CA1315404853COL3A1c.3264+9A= (n.3264+9A=)
c.3363+9A= (n.3363+9A=)
c.2528-438A= (n.2528-438A=)
2g.189007616A>GCA538449074COL3A1c.3264+9A>G (n.3264+9A>G)
c.3363+9A>G (n.3363+9A>G)
c.2528-438A>G (n.2528-438A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007618T>GCA2753584174COL3A1c.3264+11T>G (n.3264+11T>G)
c.3363+11T>G (n.3363+11T>G)
c.2528-436T>G (n.2528-436T>G)
2g.189007619C>ACA2662310864COL3A1c.3264+12C>A (n.3264+12C>A)
c.3363+12C>A (n.3363+12C>A)
c.2528-435C>A (n.2528-435C>A)
 gnomAD v4
2g.189007619C>TCA2697551453COL3A1c.3264+12C>T (n.3264+12C>T)
c.3363+12C>T (n.3363+12C>T)
c.2528-435C>T (n.2528-435C>T)
 ClinVar
2g.189007620A=CA1315404854COL3A1c.3264+13A= (n.3264+13A=)
c.3363+13A= (n.3363+13A=)
c.2528-434A= (n.2528-434A=)
2g.189007620A>GCA076039COL3A1c.3264+13A>G (n.3264+13A>G)
c.3363+13A>G (n.3363+13A>G)
c.2528-434A>G (n.2528-434A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007622T>CCA762207958COL3A1c.3264+15T>C (n.3264+15T>C)
c.3363+15T>C (n.3363+15T>C)
c.2528-432T>C (n.2528-432T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189007622T=CA1315404855COL3A1c.3264+15T= (n.3264+15T=)
c.3363+15T= (n.3363+15T=)
c.2528-432T= (n.2528-432T=)
2g.189007623T>CCA762207963COL3A1c.3264+16T>C (n.3264+16T>C)
c.3363+16T>C (n.3363+16T>C)
c.2528-431T>C (n.2528-431T>C)
 dbSNP gnomAD v4
2g.189007623T=CA1315404856COL3A1c.3264+16T= (n.3264+16T=)
c.3363+16T= (n.3363+16T=)
c.2528-431T= (n.2528-431T=)
2g.189007625G>CCA2580065275COL3A1c.3264+18G>C (n.3264+18G>C)
c.3363+18G>C (n.3363+18G>C)
c.2528-429G>C (n.2528-429G>C)
 ClinVar
2g.189007625_189007663delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATTCA1315404857COL3A1c.3264+18_3264+56delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT (n.3264+18_3264+56delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT)
c.3363+18_3363+56delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT (n.3363+18_3363+56delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT)
c.2528-429_2528-391delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT (n.2528-429_2528-391delinsGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATT)
2g.189007626T>CCA62561477COL3A1c.3264+19T>C (n.3264+19T>C)
c.3363+19T>C (n.3363+19T>C)
c.2528-428T>C (n.2528-428T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007626T=CA1315404859COL3A1c.3264+19T= (n.3264+19T=)
c.3363+19T= (n.3363+19T=)
c.2528-428T= (n.2528-428T=)
2g.189007626_189007663delCA1315404858COL3A1c.3264+19_3264+56del (n.3264+19_3264+56del)
c.3363+19_3363+56del (n.3363+19_3363+56del)
c.2528-428_2528-391del (n.2528-428_2528-391del)
 dbSNP
2g.189007627T>ACA2577185936COL3A1c.3264+20T>A (n.3264+20T>A)
c.3363+20T>A (n.3363+20T>A)
c.2528-427T>A (n.2528-427T>A)
 gnomAD v4
2g.189007628G>ACA2662310865COL3A1c.3264+21G>A (n.3264+21G>A)
c.3363+21G>A (n.3363+21G>A)
c.2528-426G>A (n.2528-426G>A)
 gnomAD v4
2g.189007628G>CCA076041COL3A1c.3264+21G>C (n.3264+21G>C)
c.3363+21G>C (n.3363+21G>C)
c.2528-426G>C (n.2528-426G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007628G=CA1315404860COL3A1c.3264+21G= (n.3264+21G=)
c.3363+21G= (n.3363+21G=)
c.2528-426G= (n.2528-426G=)
2g.189007628G>TCA762207966COL3A1c.3264+21G>T (n.3264+21G>T)
c.3363+21G>T (n.3363+21G>T)
c.2528-426G>T (n.2528-426G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007629G>ACA076043COL3A1c.3264+22G>A (n.3264+22G>A)
c.3363+22G>A (n.3363+22G>A)
c.2528-425G>A (n.2528-425G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007629G=CA1315404861COL3A1c.3264+22G= (n.3264+22G=)
c.3363+22G= (n.3363+22G=)
c.2528-425G= (n.2528-425G=)
2g.189007630A>GCA2662310866COL3A1c.3264+23A>G (n.3264+23A>G)
c.3363+23A>G (n.3363+23A>G)
c.2528-424A>G (n.2528-424A>G)
 gnomAD v4
2g.189007633dupCA538449075COL3A1c.3264+26dup (n.3264+26dup)
c.3363+26dup (n.3363+26dup)
c.2528-421dup (n.2528-421dup)
 dbSNP gnomAD v2 gnomAD v4
2g.189007633A=CA1315404862COL3A1c.3264+26A= (n.3264+26A=)
c.3363+26A= (n.3363+26A=)
c.2528-421A= (n.2528-421A=)
2g.189007633A>GCA762207977COL3A1c.3264+26A>G (n.3264+26A>G)
c.3363+26A>G (n.3363+26A>G)
c.2528-421A>G (n.2528-421A>G)
 dbSNP gnomAD v4
2g.189007633_189007634insATAAAATAGAATCA538449076COL3A1c.3264+26_3264+27insATAAAATAGAAT (n.3264+26_3264+27insATAAAATAGAAT)
c.3363+26_3363+27insATAAAATAGAAT (n.3363+26_3363+27insATAAAATAGAAT)
c.2528-421_2528-420insATAAAATAGAAT (n.2528-421_2528-420insATAAAATAGAAT)
 gnomAD v2
2g.189007633_189007634insATAAAATAGAATTTATAATAATTAAATCCA538449077COL3A1c.3264+26_3264+27insATAAAATAGAATTTATAATAATTAAATC (n.3264+26_3264+27insATAAAATAGAATTTATAATAATTAAATC)
c.3363+26_3363+27insATAAAATAGAATTTATAATAATTAAATC (n.3363+26_3363+27insATAAAATAGAATTTATAATAATTAAATC)
c.2528-421_2528-420insATAAAATAGAATTTATAATAATTAAATC (n.2528-421_2528-420insATAAAATAGAATTTATAATAATTAAATC)
 gnomAD v2
2g.189007635C>ACA1315404863COL3A1c.3264+28C>A (n.3264+28C>A)
c.3363+28C>A (n.3363+28C>A)
c.2528-419C>A (n.2528-419C>A)
 dbSNP gnomAD v4
2g.189007635C=CA1315404864COL3A1c.3264+28C= (n.3264+28C=)
c.3363+28C= (n.3363+28C=)
c.2528-419C= (n.2528-419C=)
2g.189007635C>TCA1315404865COL3A1c.3264+28C>T (n.3264+28C>T)
c.3363+28C>T (n.3363+28C>T)
c.2528-419C>T (n.2528-419C>T)
 dbSNP gnomAD v4
2g.189007636C>ACA2662310867COL3A1c.3264+29C>A (n.3264+29C>A)
c.3363+29C>A (n.3363+29C>A)
c.2528-418C>A (n.2528-418C>A)
 gnomAD v4
2g.189007637C=CA1315404866COL3A1c.3264+30C= (n.3264+30C=)
c.3363+30C= (n.3363+30C=)
c.2528-417C= (n.2528-417C=)
2g.189007637C>TCA076045COL3A1c.3264+30C>T (n.3264+30C>T)
c.3363+30C>T (n.3363+30C>T)
c.2528-417C>T (n.2528-417C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007639T>CCA2662310868COL3A1c.3264+32T>C (n.3264+32T>C)
c.3363+32T>C (n.3363+32T>C)
c.2528-415T>C (n.2528-415T>C)
 gnomAD v4
2g.189007641A=CA1315404867COL3A1c.3264+34A= (n.3264+34A=)
c.3363+34A= (n.3363+34A=)
c.2528-413A= (n.2528-413A=)
2g.189007641A>GCA762207991COL3A1c.3264+34A>G (n.3264+34A>G)
c.3363+34A>G (n.3363+34A>G)
c.2528-413A>G (n.2528-413A>G)
 dbSNP
2g.189007642A=CA1315404868COL3A1c.3264+35A= (n.3264+35A=)
c.3363+35A= (n.3363+35A=)
c.2528-412A= (n.2528-412A=)
2g.189007642A>GCA1315404869COL3A1c.3264+35A>G (n.3264+35A>G)
c.3363+35A>G (n.3363+35A>G)
c.2528-412A>G (n.2528-412A>G)
 dbSNP
2g.189007643T>CCA2662310869COL3A1c.3264+36T>C (n.3264+36T>C)
c.3363+36T>C (n.3363+36T>C)
c.2528-411T>C (n.2528-411T>C)
 gnomAD v4
2g.189007643T>GCA076047COL3A1c.3264+36T>G (n.3264+36T>G)
c.3363+36T>G (n.3363+36T>G)
c.2528-411T>G (n.2528-411T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007643T=CA1315404870COL3A1c.3264+36T= (n.3264+36T=)
c.3363+36T= (n.3363+36T=)
c.2528-411T= (n.2528-411T=)
2g.189007644G>ACA076049COL3A1c.3264+37G>A (n.3264+37G>A)
c.3363+37G>A (n.3363+37G>A)
c.2528-410G>A (n.2528-410G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007644G=CA1315404871COL3A1c.3264+37G= (n.3264+37G=)
c.3363+37G= (n.3363+37G=)
c.2528-410G= (n.2528-410G=)
2g.189007644G>TCA2662310870COL3A1c.3264+37G>T (n.3264+37G>T)
c.3363+37G>T (n.3363+37G>T)
c.2528-410G>T (n.2528-410G>T)
 gnomAD v4
2g.189007645T>ACA2577185938COL3A1c.3264+38T>A (n.3264+38T>A)
c.3363+38T>A (n.3363+38T>A)
c.2528-409T>A (n.2528-409T>A)
2g.189007646A=CA1315404872COL3A1c.3264+39A= (n.3264+39A=)
c.3363+39A= (n.3363+39A=)
c.2528-408A= (n.2528-408A=)
2g.189007646A>GCA076051COL3A1c.3264+39A>G (n.3264+39A>G)
c.3363+39A>G (n.3363+39A>G)
c.2528-408A>G (n.2528-408A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched