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

Number of alleles fetched