Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189043231C>ACA2022005COL5A2c.3391G>T (p.Gly1131Cys)
c.2230G>T (p.Gly744Cys)
c.3253G>T (p.Gly1085Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043231C=CA1315416320COL5A2c.3391G= (p.Gly1131=)
c.2230G= (p.Gly744=)
c.3253G= (p.Gly1085=)
2g.189043231C>GCA349861013COL5A2c.3391G>C (p.Gly1131Arg)
c.2230G>C (p.Gly744Arg)
c.3253G>C (p.Gly1085Arg)
2g.189043231C>TCA325060COL5A2c.3391G>A (p.Gly1131Ser)
c.2230G>A (p.Gly744Ser)
c.3253G>A (p.Gly1085Ser)
 ClinVar dbSNP COSMIC
2g.189043232T>ACA349861016COL5A2c.3390A>T (p.Lys1130Asn)
c.2229A>T (p.Lys743Asn)
c.3252A>T (p.Lys1084Asn)
2g.189043232T>CCA430320904COL5A2c.3390A>G (p.Lys1130=)
c.2229A>G (p.Lys743=)
c.3252A>G (p.Lys1084=)
2g.189043232T>GCA2022006COL5A2c.3390A>C (p.Lys1130Asn)
c.2229A>C (p.Lys743Asn)
c.3252A>C (p.Lys1084Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043232T=CA1315416325COL5A2c.3390A= (p.Lys1130=)
c.2229A= (p.Lys743=)
c.3252A= (p.Lys1084=)
2g.189043233T>ACA349861020COL5A2c.3389A>T (p.Lys1130Ile)
c.2228A>T (p.Lys743Ile)
c.3251A>T (p.Lys1084Ile)
 gnomAD v4
2g.189043233T>CCA349861021COL5A2c.3389A>G (p.Lys1130Arg)
c.2228A>G (p.Lys743Arg)
c.3251A>G (p.Lys1084Arg)
2g.189043233T>GCA349861023COL5A2c.3389A>C (p.Lys1130Thr)
c.2228A>C (p.Lys743Thr)
c.3251A>C (p.Lys1084Thr)
2g.189043234T>ACA349861025COL5A2c.3388A>T (p.Lys1130Ter)
c.2227A>T (p.Lys743Ter)
c.3250A>T (p.Lys1084Ter)
2g.189043234T>CCA349861028COL5A2c.3388A>G (p.Lys1130Glu)
c.2227A>G (p.Lys743Glu)
c.3250A>G (p.Lys1084Glu)
2g.189043234T>GCA349861030COL5A2c.3388A>C (p.Lys1130Gln)
c.2227A>C (p.Lys743Gln)
c.3250A>C (p.Lys1084Gln)
 COSMIC
2g.189043235G>ACA430320908COL5A2c.3387C>T (p.Asp1129=)
c.2226C>T (p.Asp742=)
c.3249C>T (p.Asp1083=)
2g.189043235G>CCA349861033COL5A2c.3387C>G (p.Asp1129Glu)
c.2226C>G (p.Asp742Glu)
c.3249C>G (p.Asp1083Glu)
2g.189043235G>TCA349861035COL5A2c.3387C>A (p.Asp1129Glu)
c.2226C>A (p.Asp742Glu)
c.3249C>A (p.Asp1083Glu)
2g.189043236T>ACA2022007COL5A2c.3386A>T (p.Asp1129Val)
c.2225A>T (p.Asp742Val)
c.3248A>T (p.Asp1083Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189043236T>CCA349861040COL5A2c.3386A>G (p.Asp1129Gly)
c.2225A>G (p.Asp742Gly)
c.3248A>G (p.Asp1083Gly)
2g.189043236T>GCA349861037COL5A2c.3386A>C (p.Asp1129Ala)
c.2225A>C (p.Asp742Ala)
c.3248A>C (p.Asp1083Ala)
2g.189043236T=CA1315416327COL5A2c.3386A= (p.Asp1129=)
c.2225A= (p.Asp742=)
c.3248A= (p.Asp1083=)
2g.189043237delCA2577186197COL5A2c.3385del (p.Asp1129ThrfsTer?)
c.2224del (p.Asp742ThrfsTer?)
c.3247del (p.Asp1083ThrfsTer?)
2g.189043237C>ACA349861044COL5A2c.3385G>T (p.Asp1129Tyr)
c.2224G>T (p.Asp742Tyr)
c.3247G>T (p.Asp1083Tyr)
 gnomAD v4
2g.189043237C=CA1315416331COL5A2c.3385G= (p.Asp1129=)
c.2224G= (p.Asp742=)
c.3247G= (p.Asp1083=)
2g.189043237C>GCA349861042COL5A2c.3385G>C (p.Asp1129His)
c.2224G>C (p.Asp742His)
c.3247G>C (p.Asp1083His)
 gnomAD v4
2g.189043237C>TCA322745COL5A2c.3385G>A (p.Asp1129Asn)
c.2224G>A (p.Asp742Asn)
c.3247G>A (p.Asp1083Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043238A>CCA430320916COL5A2c.3384T>G (p.Gly1128=)
c.2223T>G (p.Gly741=)
c.3246T>G (p.Gly1082=)
2g.189043238A>GCA430320917COL5A2c.3384T>C (p.Gly1128=)
c.2223T>C (p.Gly741=)
c.3246T>C (p.Gly1082=)
2g.189043238A>TCA430320918COL5A2c.3384T>A (p.Gly1128=)
c.2223T>A (p.Gly741=)
c.3246T>A (p.Gly1082=)
2g.189043239C>ACA349861048COL5A2c.3383G>T (p.Gly1128Val)
c.2222G>T (p.Gly741Val)
c.3245G>T (p.Gly1082Val)
2g.189043239C>GCA349861050COL5A2c.3383G>C (p.Gly1128Ala)
c.2222G>C (p.Gly741Ala)
c.3245G>C (p.Gly1082Ala)
2g.189043239C>TCA349861055COL5A2c.3383G>A (p.Gly1128Asp)
c.2222G>A (p.Gly741Asp)
c.3245G>A (p.Gly1082Asp)
2g.189043240delCA2662317021COL5A2c.3383del (p.Gly1128ValfsTer?)
c.2222del (p.Gly741ValfsTer?)
c.3245del (p.Gly1082ValfsTer?)
 gnomAD v4
2g.189043240C>ACA349861057COL5A2c.3382G>T (p.Gly1128Cys)
c.2221G>T (p.Gly741Cys)
c.3244G>T (p.Gly1082Cys)
 ClinVar
2g.189043240C=CA1315416335COL5A2c.3382G= (p.Gly1128=)
c.2221G= (p.Gly741=)
c.3244G= (p.Gly1082=)
2g.189043240C>GCA349861059COL5A2c.3382G>C (p.Gly1128Arg)
c.2221G>C (p.Gly741Arg)
c.3244G>C (p.Gly1082Arg)
2g.189043240C>TCA349861060COL5A2c.3382G>A (p.Gly1128Ser)
c.2221G>A (p.Gly741Ser)
c.3244G>A (p.Gly1082Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189043241A>CCA430320920COL5A2c.3381T>G (p.Arg1127=)
c.2220T>G (p.Arg740=)
c.3243T>G (p.Arg1081=)
 gnomAD v4
2g.189043241A>GCA430320924COL5A2c.3381T>C (p.Arg1127=)
c.2220T>C (p.Arg740=)
c.3243T>C (p.Arg1081=)
2g.189043241A>TCA430320922COL5A2c.3381T>A (p.Arg1127=)
c.2220T>A (p.Arg740=)
c.3243T>A (p.Arg1081=)
2g.189043241_189043242insACCCA2662317022COL5A2c.3380_3381insGGT (p.Arg1127_Gly1128insVal)
c.2219_2220insGGT (p.Arg740_Gly741insVal)
c.3242_3243insGGT (p.Arg1081_Gly1082insVal)
 gnomAD v4
2g.189043242C>ACA349861062COL5A2c.3380G>T (p.Arg1127Leu)
c.2219G>T (p.Arg740Leu)
c.3242G>T (p.Arg1081Leu)
2g.189043242C=CA1315416337COL5A2c.3380G= (p.Arg1127=)
c.2219G= (p.Arg740=)
c.3242G= (p.Arg1081=)
2g.189043242C>GCA349861064COL5A2c.3380G>C (p.Arg1127Pro)
c.2219G>C (p.Arg740Pro)
c.3242G>C (p.Arg1081Pro)
2g.189043242C>TCA2022008COL5A2c.3380G>A (p.Arg1127His)
c.2219G>A (p.Arg740His)
c.3242G>A (p.Arg1081His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189043243G>ACA10611792COL5A2c.3379C>T (p.Arg1127Cys)
c.2218C>T (p.Arg740Cys)
c.3241C>T (p.Arg1081Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189043243G>CCA349861069COL5A2c.3379C>G (p.Arg1127Gly)
c.2218C>G (p.Arg740Gly)
c.3241C>G (p.Arg1081Gly)
2g.189043243G=CA1315416346COL5A2c.3379C= (p.Arg1127=)
c.2218C= (p.Arg740=)
c.3241C= (p.Arg1081=)
2g.189043243G>TCA349861071COL5A2c.3379C>A (p.Arg1127Ser)
c.2218C>A (p.Arg740Ser)
c.3241C>A (p.Arg1081Ser)
2g.189043243_189043244insTGTATTTTCAACTACCA2662317023COL5A2c.3378_3379insGTAGTTGAAAATACA (p.Pro1126_Arg1127insValValGluAsnThr)
c.2217_2218insGTAGTTGAAAATACA (p.Pro739_Arg740insValValGluAsnThr)
c.3240_3241insGTAGTTGAAAATACA (p.Pro1080_Arg1081insValValGluAsnThr)
 gnomAD v4
2g.189043244A>CCA430320929COL5A2c.3378T>G (p.Pro1126=)
c.2217T>G (p.Pro739=)
c.3240T>G (p.Pro1080=)
2g.189043244A>GCA430320931COL5A2c.3378T>C (p.Pro1126=)
c.2217T>C (p.Pro739=)
c.3240T>C (p.Pro1080=)
2g.189043244A>TCA430320932COL5A2c.3378T>A (p.Pro1126=)
c.2217T>A (p.Pro739=)
c.3240T>A (p.Pro1080=)
2g.189043245G>ACA349861076COL5A2c.3377C>T (p.Pro1126Leu)
c.2216C>T (p.Pro739Leu)
c.3239C>T (p.Pro1080Leu)
2g.189043245G>CCA349861074COL5A2c.3377C>G (p.Pro1126Arg)
c.2216C>G (p.Pro739Arg)
c.3239C>G (p.Pro1080Arg)
 gnomAD v4
2g.189043245G>TCA349861075COL5A2c.3377C>A (p.Pro1126His)
c.2216C>A (p.Pro739His)
c.3239C>A (p.Pro1080His)
 gnomAD v4
2g.189043246G>ACA349861078COL5A2c.3376C>T (p.Pro1126Ser)
c.2215C>T (p.Pro739Ser)
c.3238C>T (p.Pro1080Ser)
 gnomAD v4
2g.189043246G>CCA349861079COL5A2c.3376C>G (p.Pro1126Ala)
c.2215C>G (p.Pro739Ala)
c.3238C>G (p.Pro1080Ala)
2g.189043246G>TCA349861081COL5A2c.3376C>A (p.Pro1126Thr)
c.2215C>A (p.Pro739Thr)
c.3238C>A (p.Pro1080Thr)
2g.189043246_189043247insGCAGAATAACA2662317024COL5A2c.3375_3376insTTATTCTGC (p.Gly1125_Pro1126insLeuPheCys)
c.2214_2215insTTATTCTGC (p.Gly738_Pro739insLeuPheCys)
c.3237_3238insTTATTCTGC (p.Gly1079_Pro1080insLeuPheCys)
 gnomAD v4
2g.189043247T>ACA430320936COL5A2c.3375A>T (p.Gly1125=)
c.2214A>T (p.Gly738=)
c.3237A>T (p.Gly1079=)
 dbSNP gnomAD v2 gnomAD v4
2g.189043247T>CCA430320937COL5A2c.3375A>G (p.Gly1125=)
c.2214A>G (p.Gly738=)
c.3237A>G (p.Gly1079=)
2g.189043247T>GCA430320938COL5A2c.3375A>C (p.Gly1125=)
c.2214A>C (p.Gly738=)
c.3237A>C (p.Gly1079=)
2g.189043247T=CA1315416348COL5A2c.3375A= (p.Gly1125=)
c.2214A= (p.Gly738=)
c.3237A= (p.Gly1079=)
2g.189043248C>ACA349861083COL5A2c.3374G>T (p.Gly1125Val)
c.2213G>T (p.Gly738Val)
c.3236G>T (p.Gly1079Val)
 gnomAD v4
2g.189043248C>GCA349861085COL5A2c.3374G>C (p.Gly1125Ala)
c.2213G>C (p.Gly738Ala)
c.3236G>C (p.Gly1079Ala)
2g.189043248C>TCA349861087COL5A2c.3374G>A (p.Gly1125Glu)
c.2213G>A (p.Gly738Glu)
c.3236G>A (p.Gly1079Glu)
2g.189043249C>ACA349861088COL5A2c.3373G>T (p.Gly1125Ter)
c.2212G>T (p.Gly738Ter)
c.3235G>T (p.Gly1079Ter)
2g.189043249C=CA1315416357COL5A2c.3373G= (p.Gly1125=)
c.2212G= (p.Gly738=)
c.3235G= (p.Gly1079=)
2g.189043249C>GCA349861090COL5A2c.3373G>C (p.Gly1125Arg)
c.2212G>C (p.Gly738Arg)
c.3235G>C (p.Gly1079Arg)
 ClinVar dbSNP
2g.189043249C>TCA2022009COL5A2c.3373G>A (p.Gly1125Arg)
c.2212G>A (p.Gly738Arg)
c.3235G>A (p.Gly1079Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189043250T>ACA349861093COL5A2c.3372A>T (p.Gln1124His)
c.2211A>T (p.Gln737His)
c.3234A>T (p.Gln1078His)
2g.189043250T>CCA430320942COL5A2c.3372A>G (p.Gln1124=)
c.2211A>G (p.Gln737=)
c.3234A>G (p.Gln1078=)
2g.189043250T>GCA349861094COL5A2c.3372A>C (p.Gln1124His)
c.2211A>C (p.Gln737His)
c.3234A>C (p.Gln1078His)
2g.189043251T>ACA349861098COL5A2c.3371A>T (p.Gln1124Leu)
c.2210A>T (p.Gln737Leu)
c.3233A>T (p.Gln1078Leu)
2g.189043251T>CCA349861100COL5A2c.3371A>G (p.Gln1124Arg)
c.2210A>G (p.Gln737Arg)
c.3233A>G (p.Gln1078Arg)
2g.189043251T>GCA349861097COL5A2c.3371A>C (p.Gln1124Pro)
c.2210A>C (p.Gln737Pro)
c.3233A>C (p.Gln1078Pro)
2g.189043251_189043252insAAAGGAATAACTTACAGGACA2662317025COL5A2c.3370_3371insTCCTGTAAGTTATTCCTTT (p.Gln1124LeufsTer3)
c.2209_2210insTCCTGTAAGTTATTCCTTT (p.Gln737LeufsTer3)
c.3232_3233insTCCTGTAAGTTATTCCTTT (p.Gln1078LeufsTer3)
 gnomAD v4
2g.189043252G>ACA349861102COL5A2c.3370C>T (p.Gln1124Ter)
c.2209C>T (p.Gln737Ter)
c.3232C>T (p.Gln1078Ter)
2g.189043252G>CCA349861103COL5A2c.3370C>G (p.Gln1124Glu)
c.2209C>G (p.Gln737Glu)
c.3232C>G (p.Gln1078Glu)
2g.189043252G>TCA349861104COL5A2c.3370C>A (p.Gln1124Lys)
c.2209C>A (p.Gln737Lys)
c.3232C>A (p.Gln1078Lys)
2g.189043253G>ACA430320944COL5A2c.3369C>T (p.Pro1123=)
c.2208C>T (p.Pro736=)
c.3231C>T (p.Pro1077=)
2g.189043253G>CCA430320946COL5A2c.3369C>G (p.Pro1123=)
c.2208C>G (p.Pro736=)
c.3231C>G (p.Pro1077=)
2g.189043253G>TCA430320945COL5A2c.3369C>A (p.Pro1123=)
c.2208C>A (p.Pro736=)
c.3231C>A (p.Pro1077=)
2g.189043254G>ACA349861107COL5A2c.3368C>T (p.Pro1123Leu)
c.2207C>T (p.Pro736Leu)
c.3230C>T (p.Pro1077Leu)
2g.189043254G>CCA349861109COL5A2c.3368C>G (p.Pro1123Arg)
c.2207C>G (p.Pro736Arg)
c.3230C>G (p.Pro1077Arg)
2g.189043254G>TCA349861110COL5A2c.3368C>A (p.Pro1123His)
c.2207C>A (p.Pro736His)
c.3230C>A (p.Pro1077His)
2g.189043254_189043255insACA2662317026COL5A2c.3367_3368insT (p.Pro1123LeufsTer7)
c.2206_2207insT (p.Pro736LeufsTer7)
c.3229_3230insT (p.Pro1077LeufsTer7)
 gnomAD v4
2g.189043255G>ACA349861113COL5A2c.3367C>T (p.Pro1123Ser)
c.2206C>T (p.Pro736Ser)
c.3229C>T (p.Pro1077Ser)
 gnomAD v4
2g.189043255G>CCA349861115COL5A2c.3367C>G (p.Pro1123Ala)
c.2206C>G (p.Pro736Ala)
c.3229C>G (p.Pro1077Ala)
2g.189043255G=CA1315416362COL5A2c.3367C= (p.Pro1123=)
c.2206C= (p.Pro736=)
c.3229C= (p.Pro1077=)
2g.189043255G>TCA2022010COL5A2c.3367C>A (p.Pro1123Thr)
c.2206C>A (p.Pro736Thr)
c.3229C>A (p.Pro1077Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043256T>ACA430320951COL5A2c.3366A>T (p.Gly1122=)
c.2205A>T (p.Gly735=)
c.3228A>T (p.Gly1076=)
 gnomAD v4
2g.189043256T>CCA430320954COL5A2c.3366A>G (p.Gly1122=)
c.2205A>G (p.Gly735=)
c.3228A>G (p.Gly1076=)
 gnomAD v4
2g.189043256T>GCA430320957COL5A2c.3366A>C (p.Gly1122=)
c.2205A>C (p.Gly735=)
c.3228A>C (p.Gly1076=)
2g.189043257C>ACA349861119COL5A2c.3365G>T (p.Gly1122Val)
c.2204G>T (p.Gly735Val)
c.3227G>T (p.Gly1076Val)
2g.189043257C>GCA349861120COL5A2c.3365G>C (p.Gly1122Ala)
c.2204G>C (p.Gly735Ala)
c.3227G>C (p.Gly1076Ala)
2g.189043257C>TCA349861122COL5A2c.3365G>A (p.Gly1122Glu)
c.2204G>A (p.Gly735Glu)
c.3227G>A (p.Gly1076Glu)
2g.189043258C>ACA349861127COL5A2c.3364G>T (p.Gly1122Ter)
c.2203G>T (p.Gly735Ter)
c.3226G>T (p.Gly1076Ter)
2g.189043258C>GCA349861129COL5A2c.3364G>C (p.Gly1122Arg)
c.2203G>C (p.Gly735Arg)
c.3226G>C (p.Gly1076Arg)
 gnomAD v4
2g.189043258C>TCA349861125COL5A2c.3364G>A (p.Gly1122Arg)
c.2203G>A (p.Gly735Arg)
c.3226G>A (p.Gly1076Arg)
 ClinVar gnomAD v4
2g.189043259C>ACA349861133COL5A2c.3364-1G>T (n.3364-1G>T)
c.2203-1G>T (n.2203-1G>T)
c.3226-1G>T (n.3226-1G>T)
2g.189043259C>GCA349861135COL5A2c.3364-1G>C (n.3364-1G>C)
c.2203-1G>C (n.2203-1G>C)
c.3226-1G>C (n.3226-1G>C)
2g.189043259C>TCA349861137COL5A2c.3364-1G>A (n.3364-1G>A)
c.2203-1G>A (n.2203-1G>A)
c.3226-1G>A (n.3226-1G>A)
2g.189043260T>ACA349861139COL5A2c.3364-2A>T (n.3364-2A>T)
c.2203-2A>T (n.2203-2A>T)
c.3226-2A>T (n.3226-2A>T)
2g.189043260T>CCA349861140COL5A2c.3364-2A>G (n.3364-2A>G)
c.2203-2A>G (n.2203-2A>G)
c.3226-2A>G (n.3226-2A>G)
2g.189043260T>GCA349861142COL5A2c.3364-2A>C (n.3364-2A>C)
c.2203-2A>C (n.2203-2A>C)
c.3226-2A>C (n.3226-2A>C)
2g.189043262G>TCA645527001COL5A2c.3364-4C>A (n.3364-4C>A)
c.2203-4C>A (n.2203-4C>A)
c.3226-4C>A (n.3226-4C>A)
 gnomAD v4 COSMIC
2g.189043263A>TCA2580065331COL5A2c.3364-5T>A (n.3364-5T>A)
c.2203-5T>A (n.2203-5T>A)
c.3226-5T>A (n.3226-5T>A)
 ClinVar
2g.189043266T>CCA538451118COL5A2c.3364-8A>G (n.3364-8A>G)
c.2203-8A>G (n.2203-8A>G)
c.3226-8A>G (n.3226-8A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189043266T=CA1315416367COL5A2c.3364-8A= (n.3364-8A=)
c.2203-8A= (n.2203-8A=)
c.3226-8A= (n.3226-8A=)
2g.189043267dupCA1315416370COL5A2c.3364-9dup (n.3364-9dup)
c.2203-9dup (n.2203-9dup)
c.3226-9dup (n.3226-9dup)
 dbSNP
2g.189043268G>ACA538451120COL5A2c.3364-10C>T (n.3364-10C>T)
c.2203-10C>T (n.2203-10C>T)
c.3226-10C>T (n.3226-10C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189043268G>CCA430320962COL5A2c.3364-10C>G (n.3364-10C>G)
c.2203-10C>G (n.2203-10C>G)
c.3226-10C>G (n.3226-10C>G)
 ClinVar dbSNP gnomAD v4
2g.189043268G=CA1315416372COL5A2c.3364-10C= (n.3364-10C=)
c.2203-10C= (n.2203-10C=)
c.3226-10C= (n.3226-10C=)
2g.189043268G>TCA2662317027COL5A2c.3364-10C>A (n.3364-10C>A)
c.2203-10C>A (n.2203-10C>A)
c.3226-10C>A (n.3226-10C>A)
 gnomAD v4
2g.189043270G>ACA1315416375COL5A2c.3364-12C>T (n.3364-12C>T)
c.2203-12C>T (n.2203-12C>T)
c.3226-12C>T (n.3226-12C>T)
 dbSNP
2g.189043270G=CA1315416374COL5A2c.3364-12C= (n.3364-12C=)
c.2203-12C= (n.2203-12C=)
c.3226-12C= (n.3226-12C=)
2g.189043270G>TCA2662317028COL5A2c.3364-12C>A (n.3364-12C>A)
c.2203-12C>A (n.2203-12C>A)
c.3226-12C>A (n.3226-12C>A)
 gnomAD v4
2g.189043271A=CA1315416377COL5A2c.3364-13T= (n.3364-13T=)
c.2203-13T= (n.2203-13T=)
c.3226-13T= (n.3226-13T=)
2g.189043271A>TCA2022011COL5A2c.3364-13T>A (n.3364-13T>A)
c.2203-13T>A (n.2203-13T>A)
c.3226-13T>A (n.3226-13T>A)
 dbSNP ExAC gnomAD v2
2g.189043273A=CA1315416380COL5A2c.3364-15T= (n.3364-15T=)
c.2203-15T= (n.2203-15T=)
c.3226-15T= (n.3226-15T=)
2g.189043273A>GCA2022012COL5A2c.3364-15T>C (n.3364-15T>C)
c.2203-15T>C (n.2203-15T>C)
c.3226-15T>C (n.3226-15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043274T>CCA2662317029COL5A2c.3364-16A>G (n.3364-16A>G)
c.2203-16A>G (n.2203-16A>G)
c.3226-16A>G (n.3226-16A>G)
 dbSNP gnomAD v4
2g.189043275G>ACA290388COL5A2c.3364-17C>T (n.3364-17C>T)
c.2203-17C>T (n.2203-17C>T)
c.3226-17C>T (n.3226-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043275G=CA1315416385COL5A2c.3364-17C= (n.3364-17C=)
c.2203-17C= (n.2203-17C=)
c.3226-17C= (n.3226-17C=)
2g.189043275G>TCA2662317030COL5A2c.3364-17C>A (n.3364-17C>A)
c.2203-17C>A (n.2203-17C>A)
c.3226-17C>A (n.3226-17C>A)
 gnomAD v4
2g.189043276G>ACA2022013COL5A2c.3364-18C>T (n.3364-18C>T)
c.2203-18C>T (n.2203-18C>T)
c.3226-18C>T (n.3226-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043276G=CA1315416389COL5A2c.3364-18C= (n.3364-18C=)
c.2203-18C= (n.2203-18C=)
c.3226-18C= (n.3226-18C=)
2g.189043276G>TCA538451124COL5A2c.3364-18C>A (n.3364-18C>A)
c.2203-18C>A (n.2203-18C>A)
c.3226-18C>A (n.3226-18C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189043277C>ACA2662317031COL5A2c.3364-19G>T (n.3364-19G>T)
c.2203-19G>T (n.2203-19G>T)
c.3226-19G>T (n.3226-19G>T)
 gnomAD v4
2g.189043279T>ACA762253150COL5A2c.3364-21A>T (n.3364-21A>T)
c.2203-21A>T (n.2203-21A>T)
c.3226-21A>T (n.3226-21A>T)
 dbSNP gnomAD v4
2g.189043279T=CA1315416392COL5A2c.3364-21A= (n.3364-21A=)
c.2203-21A= (n.2203-21A=)
c.3226-21A= (n.3226-21A=)
2g.189043280G>ACA2662317032COL5A2c.3364-22C>T (n.3364-22C>T)
c.2203-22C>T (n.2203-22C>T)
c.3226-22C>T (n.3226-22C>T)
 gnomAD v4
2g.189043280G>TCA2577186198COL5A2c.3364-22C>A (n.3364-22C>A)
c.2203-22C>A (n.2203-22C>A)
c.3226-22C>A (n.3226-22C>A)
 gnomAD v4
2g.189043281A=CA1315416393COL5A2c.3364-23T= (n.3364-23T=)
c.2203-23T= (n.2203-23T=)
c.3226-23T= (n.3226-23T=)
2g.189043281A>CCA1315416395COL5A2c.3364-23T>G (n.3364-23T>G)
c.2203-23T>G (n.2203-23T>G)
c.3226-23T>G (n.3226-23T>G)
 dbSNP
2g.189043283A=CA1315416396COL5A2c.3364-25T= (n.3364-25T=)
c.2203-25T= (n.2203-25T=)
c.3226-25T= (n.3226-25T=)
2g.189043283A>GCA1040405765COL5A2c.3364-25T>C (n.3364-25T>C)
c.2203-25T>C (n.2203-25T>C)
c.3226-25T>C (n.3226-25T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189043283A>TCA2662317033COL5A2c.3364-25T>A (n.3364-25T>A)
c.2203-25T>A (n.2203-25T>A)
c.3226-25T>A (n.3226-25T>A)
 gnomAD v4
2g.189043284A=CA1315416398COL5A2c.3364-26T= (n.3364-26T=)
c.2203-26T= (n.2203-26T=)
c.3226-26T= (n.3226-26T=)
2g.189043284A>GCA1315416399COL5A2c.3364-26T>C (n.3364-26T>C)
c.2203-26T>C (n.2203-26T>C)
c.3226-26T>C (n.3226-26T>C)
 dbSNP gnomAD v4
2g.189043287A=CA1315416403COL5A2c.3364-29T= (n.3364-29T=)
c.2203-29T= (n.2203-29T=)
c.3226-29T= (n.3226-29T=)
2g.189043287A>GCA2022014COL5A2c.3364-29T>C (n.3364-29T>C)
c.2203-29T>C (n.2203-29T>C)
c.3226-29T>C (n.3226-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189043287A>TCA2662317034COL5A2c.3364-29T>A (n.3364-29T>A)
c.2203-29T>A (n.2203-29T>A)
c.3226-29T>A (n.3226-29T>A)
 gnomAD v4
2g.189043288C>GCA2557245859COL5A2c.3364-30G>C (n.3364-30G>C)
c.2203-30G>C (n.2203-30G>C)
c.3226-30G>C (n.3226-30G>C)
2g.189043291G>TCA2662317035COL5A2c.3364-33C>A (n.3364-33C>A)
c.2203-33C>A (n.2203-33C>A)
c.3226-33C>A (n.3226-33C>A)
 gnomAD v4
2g.189043292C=CA1315416405COL5A2c.3364-34G= (n.3364-34G=)
c.2203-34G= (n.2203-34G=)
c.3226-34G= (n.3226-34G=)
2g.189043292C>TCA2022015COL5A2c.3364-34G>A (n.3364-34G>A)
c.2203-34G>A (n.2203-34G>A)
c.3226-34G>A (n.3226-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189043293T>CCA1315416408COL5A2c.3364-35A>G (n.3364-35A>G)
c.2203-35A>G (n.2203-35A>G)
c.3226-35A>G (n.3226-35A>G)
 dbSNP gnomAD v4
2g.189043293T=CA1315416407COL5A2c.3364-35A= (n.3364-35A=)
c.2203-35A= (n.2203-35A=)
c.3226-35A= (n.3226-35A=)
2g.189043295C>ACA1315416411COL5A2c.3364-37G>T (n.3364-37G>T)
c.2203-37G>T (n.2203-37G>T)
c.3226-37G>T (n.3226-37G>T)
 dbSNP gnomAD v4
2g.189043295C=CA1315416410COL5A2c.3364-37G= (n.3364-37G=)
c.2203-37G= (n.2203-37G=)
c.3226-37G= (n.3226-37G=)
2g.189043295C>TCA2662317036COL5A2c.3364-37G>A (n.3364-37G>A)
c.2203-37G>A (n.2203-37G>A)
c.3226-37G>A (n.3226-37G>A)
 gnomAD v4
2g.189043296A=CA1315416413COL5A2c.3364-38T= (n.3364-38T=)
c.2203-38T= (n.2203-38T=)
c.3226-38T= (n.3226-38T=)
2g.189043296A>CCA538451126COL5A2c.3364-38T>G (n.3364-38T>G)
c.2203-38T>G (n.2203-38T>G)
c.3226-38T>G (n.3226-38T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189043296A>GCA2662317037COL5A2c.3364-38T>C (n.3364-38T>C)
c.2203-38T>C (n.2203-38T>C)
c.3226-38T>C (n.3226-38T>C)
 gnomAD v4
2g.189043297T>ACA2542339836COL5A2c.3364-39A>T (n.3364-39A>T)
c.2203-39A>T (n.2203-39A>T)
c.3226-39A>T (n.3226-39A>T)
2g.189043298A>GCA2662317038COL5A2c.3364-40T>C (n.3364-40T>C)
c.2203-40T>C (n.2203-40T>C)
c.3226-40T>C (n.3226-40T>C)
 gnomAD v4
2g.189043300T>CCA2701316302COL5A2c.3364-42A>G (n.3364-42A>G)
c.2203-42A>G (n.2203-42A>G)
c.3226-42A>G (n.3226-42A>G)
 dbSNP
2g.189043300T>GCA2753575418COL5A2c.3364-42A>C (n.3364-42A>C)
c.2203-42A>C (n.2203-42A>C)
c.3226-42A>C (n.3226-42A>C)
2g.189043302T>CCA1315416415COL5A2c.3364-44A>G (n.3364-44A>G)
c.2203-44A>G (n.2203-44A>G)
c.3226-44A>G (n.3226-44A>G)
 dbSNP
2g.189043302T>GCA2662317039COL5A2c.3364-44A>C (n.3364-44A>C)
c.2203-44A>C (n.2203-44A>C)
c.3226-44A>C (n.3226-44A>C)
 gnomAD v4
2g.189043302T=CA1315416414COL5A2c.3364-44A= (n.3364-44A=)
c.2203-44A= (n.2203-44A=)
c.3226-44A= (n.3226-44A=)
2g.189043304G>TCA2577186199COL5A2c.3364-46C>A (n.3364-46C>A)
c.2203-46C>A (n.2203-46C>A)
c.3226-46C>A (n.3226-46C>A)
 gnomAD v4
2g.189043305T>CCA1315416419COL5A2c.3364-47A>G (n.3364-47A>G)
c.2203-47A>G (n.2203-47A>G)
c.3226-47A>G (n.3226-47A>G)
 dbSNP gnomAD v4
2g.189043305T=CA1315416417COL5A2c.3364-47A= (n.3364-47A=)
c.2203-47A= (n.2203-47A=)
c.3226-47A= (n.3226-47A=)
2g.189043306T>ACA2577186200COL5A2c.3364-48A>T (n.3364-48A>T)
c.2203-48A>T (n.2203-48A>T)
c.3226-48A>T (n.3226-48A>T)
2g.189043307G>TCA2662317040COL5A2c.3364-49C>A (n.3364-49C>A)
c.2203-49C>A (n.2203-49C>A)
c.3226-49C>A (n.3226-49C>A)
 gnomAD v4
2g.189043309G>ACA2022016COL5A2c.3364-51C>T (n.3364-51C>T)
c.2203-51C>T (n.2203-51C>T)
c.3226-51C>T (n.3226-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043309G=CA1315416423COL5A2c.3364-51C= (n.3364-51C=)
c.2203-51C= (n.2203-51C=)
c.3226-51C= (n.3226-51C=)
2g.189043309G>TCA2577186201COL5A2c.3364-51C>A (n.3364-51C>A)
c.2203-51C>A (n.2203-51C>A)
c.3226-51C>A (n.3226-51C>A)
 gnomAD v4
2g.189043310A=CA1315416426COL5A2c.3364-52T= (n.3364-52T=)
c.2203-52T= (n.2203-52T=)
c.3226-52T= (n.3226-52T=)
2g.189043310A>CCA1315416428COL5A2c.3364-52T>G (n.3364-52T>G)
c.2203-52T>G (n.2203-52T>G)
c.3226-52T>G (n.3226-52T>G)
 dbSNP
2g.189043311C=CA1315416431COL5A2c.3364-53G= (n.3364-53G=)
c.2203-53G= (n.2203-53G=)
c.3226-53G= (n.3226-53G=)
2g.189043311C>TCA62588020COL5A2c.3364-53G>A (n.3364-53G>A)
c.2203-53G>A (n.2203-53G>A)
c.3226-53G>A (n.3226-53G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189043312T>ACA2662317041COL5A2c.3364-54A>T (n.3364-54A>T)
c.2203-54A>T (n.2203-54A>T)
c.3226-54A>T (n.3226-54A>T)
 gnomAD v4
2g.189043316A=CA1315416434COL5A2c.3364-58T= (n.3364-58T=)
c.2203-58T= (n.2203-58T=)
c.3226-58T= (n.3226-58T=)
2g.189043316A>GCA762253156COL5A2c.3364-58T>C (n.3364-58T>C)
c.2203-58T>C (n.2203-58T>C)
c.3226-58T>C (n.3226-58T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189043316A>TCA2662317042COL5A2c.3364-58T>A (n.3364-58T>A)
c.2203-58T>A (n.2203-58T>A)
c.3226-58T>A (n.3226-58T>A)
 gnomAD v4
2g.189043317T>CCA62588022COL5A2c.3364-59A>G (n.3364-59A>G)
c.2203-59A>G (n.2203-59A>G)
c.3226-59A>G (n.3226-59A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189043317T=CA1315416435COL5A2c.3364-59A= (n.3364-59A=)
c.2203-59A= (n.2203-59A=)
c.3226-59A= (n.3226-59A=)
2g.189043318T>ACA2662317043COL5A2c.3364-60A>T (n.3364-60A>T)
c.2203-60A>T (n.2203-60A>T)
c.3226-60A>T (n.3226-60A>T)
 gnomAD v4
2g.189043318T>GCA2606992148COL5A2c.3364-60A>C (n.3364-60A>C)
c.2203-60A>C (n.2203-60A>C)
c.3226-60A>C (n.3226-60A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189043321C>GCA2662317044COL5A2c.3364-63G>C (n.3364-63G>C)
c.2203-63G>C (n.2203-63G>C)
c.3226-63G>C (n.3226-63G>C)
 gnomAD v4
2g.189043321C>TCA2662317045COL5A2c.3364-63G>A (n.3364-63G>A)
c.2203-63G>A (n.2203-63G>A)
c.3226-63G>A (n.3226-63G>A)
 gnomAD v4
2g.189043321_189043326delinsCTAAAACA1315416437COL5A2c.3364-68_3364-63delinsTTTTAG (n.3364-68_3364-63delinsTTTTAG)
c.2203-68_2203-63delinsTTTTAG (n.2203-68_2203-63delinsTTTTAG)
c.3226-68_3226-63delinsTTTTAG (n.3226-68_3226-63delinsTTTTAG)
2g.189043322T>ACA2577186202COL5A2c.3364-64A>T (n.3364-64A>T)
c.2203-64A>T (n.2203-64A>T)
c.3226-64A>T (n.3226-64A>T)
2g.189043322T=CA1315416440COL5A2c.3364-64A= (n.3364-64A=)
c.2203-64A= (n.2203-64A=)
c.3226-64A= (n.3226-64A=)
2g.189043323_189043327delCA1315416438COL5A2c.3364-68_3364-64del (n.3364-68_3364-64del)
c.2203-68_2203-64del (n.2203-68_2203-64del)
c.3226-68_3226-64del (n.3226-68_3226-64del)
 dbSNP
2g.189043323A>TCA2662317046COL5A2c.3364-65T>A (n.3364-65T>A)
c.2203-65T>A (n.2203-65T>A)
c.3226-65T>A (n.3226-65T>A)
 gnomAD v4
2g.189043326dupCA1040405774COL5A2c.3364-65dup (n.3364-65dup)
c.2203-65dup (n.2203-65dup)
c.3226-65dup (n.3226-65dup)
 dbSNP gnomAD v3 gnomAD v4
2g.189043326A=CA1315416443COL5A2c.3364-68T= (n.3364-68T=)
c.2203-68T= (n.2203-68T=)
c.3226-68T= (n.3226-68T=)
2g.189043326A>GCA538451127COL5A2c.3364-68T>C (n.3364-68T>C)
c.2203-68T>C (n.2203-68T>C)
c.3226-68T>C (n.3226-68T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189043330delCA2577186203COL5A2c.3364-69del (n.3364-69del)
c.2203-69del (n.2203-69del)
c.3226-69del (n.3226-69del)
2g.189043328T>CCA762253162COL5A2c.3364-70A>G (n.3364-70A>G)
c.2203-70A>G (n.2203-70A>G)
c.3226-70A>G (n.3226-70A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189043328T=CA1315416445COL5A2c.3364-70A= (n.3364-70A=)
c.2203-70A= (n.2203-70A=)
c.3226-70A= (n.3226-70A=)
2g.189043331A>GCA2753575419COL5A2c.3364-73T>C (n.3364-73T>C)
c.2203-73T>C (n.2203-73T>C)
c.3226-73T>C (n.3226-73T>C)

Number of alleles fetched