Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189035106G>ACA16610672COL5A2c.4163C>T (p.Thr1388Ile)
c.3002C>T (p.Thr1001Ile)
c.4025C>T (p.Thr1342Ile)
 ClinVar dbSNP
2g.189035106G>CCA2021833COL5A2c.4163C>G (p.Thr1388Ser)
c.3002C>G (p.Thr1001Ser)
c.4025C>G (p.Thr1342Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035106G=CA1315422595COL5A2c.4163C= (p.Thr1388=)
c.3002C= (p.Thr1001=)
c.4025C= (p.Thr1342=)
2g.189035106G>TCA281496COL5A2c.4163C>A (p.Thr1388Asn)
c.3002C>A (p.Thr1001Asn)
c.4025C>A (p.Thr1342Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035107T>ACA349855199COL5A2c.4162A>T (p.Thr1388Ser)
c.3001A>T (p.Thr1001Ser)
c.4024A>T (p.Thr1342Ser)
2g.189035107T>CCA349855200COL5A2c.4162A>G (p.Thr1388Ala)
c.3001A>G (p.Thr1001Ala)
c.4024A>G (p.Thr1342Ala)
2g.189035107T>GCA349855201COL5A2c.4162A>C (p.Thr1388Pro)
c.3001A>C (p.Thr1001Pro)
c.4024A>C (p.Thr1342Pro)
2g.189035108C>ACA349855202COL5A2c.4161G>T (p.Met1387Ile)
c.3000G>T (p.Met1000Ile)
c.4023G>T (p.Met1341Ile)
 COSMIC
2g.189035108C=CA1315422596COL5A2c.4161G= (p.Met1387=)
c.3000G= (p.Met1000=)
c.4023G= (p.Met1341=)
2g.189035108C>GCA349855203COL5A2c.4161G>C (p.Met1387Ile)
c.3000G>C (p.Met1000Ile)
c.4023G>C (p.Met1341Ile)
 gnomAD v4
2g.189035108C>TCA349855204COL5A2c.4161G>A (p.Met1387Ile)
c.3000G>A (p.Met1000Ile)
c.4023G>A (p.Met1341Ile)
 ClinVar dbSNP gnomAD v4
2g.189035109A>CCA349855207COL5A2c.4160T>G (p.Met1387Arg)
c.2999T>G (p.Met1000Arg)
c.4022T>G (p.Met1341Arg)
2g.189035109A>GCA349855205COL5A2c.4160T>C (p.Met1387Thr)
c.2999T>C (p.Met1000Thr)
c.4022T>C (p.Met1341Thr)
2g.189035109A>TCA349855206COL5A2c.4160T>A (p.Met1387Lys)
c.2999T>A (p.Met1000Lys)
c.4022T>A (p.Met1341Lys)
 gnomAD v4
2g.189035110T>ACA349855208COL5A2c.4159A>T (p.Met1387Leu)
c.2998A>T (p.Met1000Leu)
c.4021A>T (p.Met1341Leu)
2g.189035110T>CCA349855209COL5A2c.4159A>G (p.Met1387Val)
c.2998A>G (p.Met1000Val)
c.4021A>G (p.Met1341Val)
2g.189035110T>GCA349855210COL5A2c.4159A>C (p.Met1387Leu)
c.2998A>C (p.Met1000Leu)
c.4021A>C (p.Met1341Leu)
2g.189035111C>ACA349855211COL5A2c.4158G>T (p.Gln1386His)
c.2997G>T (p.Gln999His)
c.4020G>T (p.Gln1340His)
2g.189035111C>GCA349855212COL5A2c.4158G>C (p.Gln1386His)
c.2997G>C (p.Gln999His)
c.4020G>C (p.Gln1340His)
2g.189035111C>TCA430442478COL5A2c.4158G>A (p.Gln1386=)
c.2997G>A (p.Gln999=)
c.4020G>A (p.Gln1340=)
2g.189035112T>ACA349855213COL5A2c.4157A>T (p.Gln1386Leu)
c.2996A>T (p.Gln999Leu)
c.4019A>T (p.Gln1340Leu)
2g.189035112T>CCA2021834COL5A2c.4157A>G (p.Gln1386Arg)
c.2996A>G (p.Gln999Arg)
c.4019A>G (p.Gln1340Arg)
 dbSNP ExAC gnomAD v2
2g.189035112T>GCA349855214COL5A2c.4157A>C (p.Gln1386Pro)
c.2996A>C (p.Gln999Pro)
c.4019A>C (p.Gln1340Pro)
2g.189035112T=CA1315422597COL5A2c.4157A= (p.Gln1386=)
c.2996A= (p.Gln999=)
c.4019A= (p.Gln1340=)
2g.189035113G>ACA349855215COL5A2c.4156C>T (p.Gln1386Ter)
c.2995C>T (p.Gln999Ter)
c.4018C>T (p.Gln1340Ter)
2g.189035113G>CCA349855216COL5A2c.4156C>G (p.Gln1386Glu)
c.2995C>G (p.Gln999Glu)
c.4018C>G (p.Gln1340Glu)
 COSMIC
2g.189035113G>TCA349855217COL5A2c.4156C>A (p.Gln1386Lys)
c.2995C>A (p.Gln999Lys)
c.4018C>A (p.Gln1340Lys)
 COSMIC
2g.189035114A=CA1315422598COL5A2c.4155T= (p.Thr1385=)
c.2994T= (p.Thr998=)
c.4017T= (p.Thr1339=)
2g.189035114A>CCA430442479COL5A2c.4155T>G (p.Thr1385=)
c.2994T>G (p.Thr998=)
c.4017T>G (p.Thr1339=)
2g.189035114A>GCA430442480COL5A2c.4155T>C (p.Thr1385=)
c.2994T>C (p.Thr998=)
c.4017T>C (p.Thr1339=)
2g.189035114A>TCA430442481COL5A2c.4155T>A (p.Thr1385=)
c.2994T>A (p.Thr998=)
c.4017T>A (p.Thr1339=)
 dbSNP gnomAD v2
2g.189035115G>ACA349855220COL5A2c.4154C>T (p.Thr1385Ile)
c.2993C>T (p.Thr998Ile)
c.4016C>T (p.Thr1339Ile)
 ClinVar
2g.189035115G>CCA349855219COL5A2c.4154C>G (p.Thr1385Ser)
c.2993C>G (p.Thr998Ser)
c.4016C>G (p.Thr1339Ser)
2g.189035115G>TCA349855218COL5A2c.4154C>A (p.Thr1385Asn)
c.2993C>A (p.Thr998Asn)
c.4016C>A (p.Thr1339Asn)
2g.189035116T>ACA349855221COL5A2c.4153A>T (p.Thr1385Ser)
c.2992A>T (p.Thr998Ser)
c.4015A>T (p.Thr1339Ser)
2g.189035116T>CCA349855222COL5A2c.4153A>G (p.Thr1385Ala)
c.2992A>G (p.Thr998Ala)
c.4015A>G (p.Thr1339Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189035116T>GCA349855223COL5A2c.4153A>C (p.Thr1385Pro)
c.2992A>C (p.Thr998Pro)
c.4015A>C (p.Thr1339Pro)
2g.189035116T=CA1315422599COL5A2c.4153A= (p.Thr1385=)
c.2992A= (p.Thr998=)
c.4015A= (p.Thr1339=)
2g.189035117A=CA1315422600COL5A2c.4152T= (p.Ile1384=)
c.2991T= (p.Ile997=)
c.4014T= (p.Ile1338=)
2g.189035117A>CCA349855225COL5A2c.4152T>G (p.Ile1384Met)
c.2991T>G (p.Ile997Met)
c.4014T>G (p.Ile1338Met)
2g.189035117A>GCA430442482COL5A2c.4152T>C (p.Ile1384=)
c.2991T>C (p.Ile997=)
c.4014T>C (p.Ile1338=)
 ClinVar dbSNP gnomAD v4
2g.189035117A>TCA430442483COL5A2c.4152T>A (p.Ile1384=)
c.2991T>A (p.Ile997=)
c.4014T>A (p.Ile1338=)
2g.189035118A>CCA349855227COL5A2c.4151T>G (p.Ile1384Ser)
c.2990T>G (p.Ile997Ser)
c.4013T>G (p.Ile1338Ser)
2g.189035118A>GCA349855229COL5A2c.4151T>C (p.Ile1384Thr)
c.2990T>C (p.Ile997Thr)
c.4013T>C (p.Ile1338Thr)
2g.189035118A>TCA349855231COL5A2c.4151T>A (p.Ile1384Asn)
c.2990T>A (p.Ile997Asn)
c.4013T>A (p.Ile1338Asn)
2g.189035119T>ACA349855233COL5A2c.4150A>T (p.Ile1384Phe)
c.2989A>T (p.Ile997Phe)
c.4012A>T (p.Ile1338Phe)
2g.189035119T>CCA349855236COL5A2c.4150A>G (p.Ile1384Val)
c.2989A>G (p.Ile997Val)
c.4012A>G (p.Ile1338Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189035119T>GCA349855234COL5A2c.4150A>C (p.Ile1384Leu)
c.2989A>C (p.Ile997Leu)
c.4012A>C (p.Ile1338Leu)
2g.189035119T=CA1315422601COL5A2c.4150A= (p.Ile1384=)
c.2989A= (p.Ile997=)
c.4012A= (p.Ile1338=)
2g.189035120G>ACA2021835COL5A2c.4149C>T (p.Ala1383=)
c.2988C>T (p.Ala996=)
c.4011C>T (p.Ala1337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched