Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.189035120G>CCA430442484COL5A2c.4149C>G (p.Ala1383=)
c.2988C>G (p.Ala996=)
c.4011C>G (p.Ala1337=)
2g.189035120G=CA1315422602COL5A2c.4149C= (p.Ala1383=)
c.2988C= (p.Ala996=)
c.4011C= (p.Ala1337=)
2g.189035120G>TCA430442485COL5A2c.4149C>A (p.Ala1383=)
c.2988C>A (p.Ala996=)
c.4011C>A (p.Ala1337=)
2g.189035121G>ACA349855238COL5A2c.4148C>T (p.Ala1383Val)
c.2987C>T (p.Ala996Val)
c.4010C>T (p.Ala1337Val)
2g.189035121G>CCA349855239COL5A2c.4148C>G (p.Ala1383Gly)
c.2987C>G (p.Ala996Gly)
c.4010C>G (p.Ala1337Gly)
2g.189035121G>TCA349855241COL5A2c.4148C>A (p.Ala1383Asp)
c.2987C>A (p.Ala996Asp)
c.4010C>A (p.Ala1337Asp)
2g.189035122C>ACA349855244COL5A2c.4147G>T (p.Ala1383Ser)
c.2986G>T (p.Ala996Ser)
c.4009G>T (p.Ala1337Ser)
2g.189035122C=CA1315422603COL5A2c.4147G= (p.Ala1383=)
c.2986G= (p.Ala996=)
c.4009G= (p.Ala1337=)
2g.189035122C>GCA349855248COL5A2c.4147G>C (p.Ala1383Pro)
c.2986G>C (p.Ala996Pro)
c.4009G>C (p.Ala1337Pro)
 dbSNP
2g.189035122C>TCA349855246COL5A2c.4147G>A (p.Ala1383Thr)
c.2986G>A (p.Ala996Thr)
c.4009G>A (p.Ala1337Thr)
2g.189035123T>ACA430442486COL5A2c.4146A>T (p.Thr1382=)
c.2985A>T (p.Thr995=)
c.4008A>T (p.Thr1336=)
2g.189035123T>CCA2021836COL5A2c.4146A>G (p.Thr1382=)
c.2985A>G (p.Thr995=)
c.4008A>G (p.Thr1336=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035123T>GCA430442487COL5A2c.4146A>C (p.Thr1382=)
c.2985A>C (p.Thr995=)
c.4008A>C (p.Thr1336=)
2g.189035123T=CA1315422604COL5A2c.4146A= (p.Thr1382=)
c.2985A= (p.Thr995=)
c.4008A= (p.Thr1336=)
2g.189035124G>ACA349855250COL5A2c.4145C>T (p.Thr1382Ile)
c.2984C>T (p.Thr995Ile)
c.4007C>T (p.Thr1336Ile)
 gnomAD v4
2g.189035124G>CCA349855252COL5A2c.4145C>G (p.Thr1382Arg)
c.2984C>G (p.Thr995Arg)
c.4007C>G (p.Thr1336Arg)
2g.189035124G=CA1315422605COL5A2c.4145C= (p.Thr1382=)
c.2984C= (p.Thr995=)
c.4007C= (p.Thr1336=)
2g.189035124G>TCA349855253COL5A2c.4145C>A (p.Thr1382Lys)
c.2984C>A (p.Thr995Lys)
c.4007C>A (p.Thr1336Lys)
 dbSNP gnomAD v4
2g.189035125T>ACA349855255COL5A2c.4144A>T (p.Thr1382Ser)
c.2983A>T (p.Thr995Ser)
c.4006A>T (p.Thr1336Ser)
2g.189035125T>CCA2021837COL5A2c.4144A>G (p.Thr1382Ala)
c.2983A>G (p.Thr995Ala)
c.4006A>G (p.Thr1336Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035125T>GCA349855258COL5A2c.4144A>C (p.Thr1382Pro)
c.2983A>C (p.Thr995Pro)
c.4006A>C (p.Thr1336Pro)
 dbSNP gnomAD v4
2g.189035125T=CA1315422606COL5A2c.4144A= (p.Thr1382=)
c.2983A= (p.Thr995=)
c.4006A= (p.Thr1336=)
2g.189035126A=CA1315422607COL5A2c.4143T= (p.Asn1381=)
c.2982T= (p.Asn994=)
c.4005T= (p.Asn1335=)
2g.189035126A>CCA349855260COL5A2c.4143T>G (p.Asn1381Lys)
c.2982T>G (p.Asn994Lys)
c.4005T>G (p.Asn1335Lys)
 dbSNP gnomAD v4
2g.189035126A>GCA62581351COL5A2c.4143T>C (p.Asn1381=)
c.2982T>C (p.Asn994=)
c.4005T>C (p.Asn1335=)
 dbSNP
2g.189035126A>TCA349855262COL5A2c.4143T>A (p.Asn1381Lys)
c.2982T>A (p.Asn994Lys)
c.4005T>A (p.Asn1335Lys)
2g.189035127T>ACA349855265COL5A2c.4142A>T (p.Asn1381Ile)
c.2981A>T (p.Asn994Ile)
c.4004A>T (p.Asn1335Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189035127T>CCA349855264COL5A2c.4142A>G (p.Asn1381Ser)
c.2981A>G (p.Asn994Ser)
c.4004A>G (p.Asn1335Ser)
2g.189035127T>GCA349855263COL5A2c.4142A>C (p.Asn1381Thr)
c.2981A>C (p.Asn994Thr)
c.4004A>C (p.Asn1335Thr)
 dbSNP gnomAD v2
2g.189035127T=CA1315422608COL5A2c.4142A= (p.Asn1381=)
c.2981A= (p.Asn994=)
c.4004A= (p.Asn1335=)
2g.189035128T>ACA349855268COL5A2c.4141A>T (p.Asn1381Tyr)
c.2980A>T (p.Asn994Tyr)
c.4003A>T (p.Asn1335Tyr)
2g.189035128T>CCA349855272COL5A2c.4141A>G (p.Asn1381Asp)
c.2980A>G (p.Asn994Asp)
c.4003A>G (p.Asn1335Asp)
2g.189035128T>GCA349855269COL5A2c.4141A>C (p.Asn1381His)
c.2980A>C (p.Asn994His)
c.4003A>C (p.Asn1335His)
2g.189035129A=CA1315422609COL5A2c.4140T= (p.Pro1380=)
c.2979T= (p.Pro993=)
c.4002T= (p.Pro1334=)
2g.189035129A>CCA430442488COL5A2c.4140T>G (p.Pro1380=)
c.2979T>G (p.Pro993=)
c.4002T>G (p.Pro1334=)
 gnomAD v4
2g.189035129A>GCA430442489COL5A2c.4140T>C (p.Pro1380=)
c.2979T>C (p.Pro993=)
c.4002T>C (p.Pro1334=)
 gnomAD v4
2g.189035129A>TCA2021838COL5A2c.4140T>A (p.Pro1380=)
c.2979T>A (p.Pro993=)
c.4002T>A (p.Pro1334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035130G>ACA349855274COL5A2c.4139C>T (p.Pro1380Leu)
c.2978C>T (p.Pro993Leu)
c.4001C>T (p.Pro1334Leu)
 gnomAD v4
2g.189035130G>CCA349855277COL5A2c.4139C>G (p.Pro1380Arg)
c.2978C>G (p.Pro993Arg)
c.4001C>G (p.Pro1334Arg)
2g.189035130G>TCA349855279COL5A2c.4139C>A (p.Pro1380His)
c.2978C>A (p.Pro993His)
c.4001C>A (p.Pro1334His)
2g.189035131G>ACA16604069COL5A2c.4138C>T (p.Pro1380Ser)
c.2977C>T (p.Pro993Ser)
c.4000C>T (p.Pro1334Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189035131G>CCA2021839COL5A2c.4138C>G (p.Pro1380Ala)
c.2977C>G (p.Pro993Ala)
c.4000C>G (p.Pro1334Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035131G=CA1315422610COL5A2c.4138C= (p.Pro1380=)
c.2977C= (p.Pro993=)
c.4000C= (p.Pro1334=)
2g.189035131G>TCA349855285COL5A2c.4138C>A (p.Pro1380Thr)
c.2977C>A (p.Pro993Thr)
c.4000C>A (p.Pro1334Thr)
2g.189035132T>ACA430442490COL5A2c.4137A>T (p.Ser1379=)
c.2976A>T (p.Ser992=)
c.3999A>T (p.Ser1333=)
2g.189035132T>CCA430442491COL5A2c.4137A>G (p.Ser1379=)
c.2976A>G (p.Ser992=)
c.3999A>G (p.Ser1333=)
 ClinVar dbSNP gnomAD v4
2g.189035132T>GCA430442492COL5A2c.4137A>C (p.Ser1379=)
c.2976A>C (p.Ser992=)
c.3999A>C (p.Ser1333=)
2g.189035133G>ACA349855287COL5A2c.4136C>T (p.Ser1379Leu)
c.2975C>T (p.Ser992Leu)
c.3998C>T (p.Ser1333Leu)
 dbSNP
2g.189035133G>CCA349855289COL5A2c.4136C>G (p.Ser1379Ter)
c.2975C>G (p.Ser992Ter)
c.3998C>G (p.Ser1333Ter)
2g.189035133G=CA1315422611COL5A2c.4136C= (p.Ser1379=)
c.2975C= (p.Ser992=)
c.3998C= (p.Ser1333=)
2g.189035133G>TCA349855291COL5A2c.4136C>A (p.Ser1379Ter)
c.2975C>A (p.Ser992Ter)
c.3998C>A (p.Ser1333Ter)
2g.189035134A>CCA349855293COL5A2c.4135T>G (p.Ser1379Ala)
c.2974T>G (p.Ser992Ala)
c.3997T>G (p.Ser1333Ala)
2g.189035134A>GCA349855295COL5A2c.4135T>C (p.Ser1379Pro)
c.2974T>C (p.Ser992Pro)
c.3997T>C (p.Ser1333Pro)
2g.189035134A>TCA349855297COL5A2c.4135T>A (p.Ser1379Thr)
c.2974T>A (p.Ser992Thr)
c.3997T>A (p.Ser1333Thr)
2g.189035135T>ACA349855299COL5A2c.4134A>T (p.Gln1378His)
c.2973A>T (p.Gln991His)
c.3996A>T (p.Gln1332His)
2g.189035135T>CCA430442493COL5A2c.4134A>G (p.Gln1378=)
c.2973A>G (p.Gln991=)
c.3996A>G (p.Gln1332=)
2g.189035135T>GCA349855301COL5A2c.4134A>C (p.Gln1378His)
c.2973A>C (p.Gln991His)
c.3996A>C (p.Gln1332His)
2g.189035136T>ACA349855303COL5A2c.4133A>T (p.Gln1378Leu)
c.2972A>T (p.Gln991Leu)
c.3995A>T (p.Gln1332Leu)
2g.189035136T>CCA323561COL5A2c.4133A>G (p.Gln1378Arg)
c.2972A>G (p.Gln991Arg)
c.3995A>G (p.Gln1332Arg)
 ClinVar dbSNP gnomAD v4
2g.189035136T>GCA349855307COL5A2c.4133A>C (p.Gln1378Pro)
c.2972A>C (p.Gln991Pro)
c.3995A>C (p.Gln1332Pro)
2g.189035136T=CA1315422612COL5A2c.4133A= (p.Gln1378=)
c.2972A= (p.Gln991=)
c.3995A= (p.Gln1332=)
2g.189035137G>ACA349855309COL5A2c.4132C>T (p.Gln1378Ter)
c.2971C>T (p.Gln991Ter)
c.3994C>T (p.Gln1332Ter)
2g.189035137G>CCA349855311COL5A2c.4132C>G (p.Gln1378Glu)
c.2971C>G (p.Gln991Glu)
c.3994C>G (p.Gln1332Glu)
2g.189035137G>TCA349855313COL5A2c.4132C>A (p.Gln1378Lys)
c.2971C>A (p.Gln991Lys)
c.3994C>A (p.Gln1332Lys)
 gnomAD v4
2g.189035138G>ACA430442494COL5A2c.4131C>T (p.His1377=)
c.2970C>T (p.His990=)
c.3993C>T (p.His1331=)
2g.189035138G>CCA349855314COL5A2c.4131C>G (p.His1377Gln)
c.2970C>G (p.His990Gln)
c.3993C>G (p.His1331Gln)
2g.189035138G>TCA349855318COL5A2c.4131C>A (p.His1377Gln)
c.2970C>A (p.His990Gln)
c.3993C>A (p.His1331Gln)
2g.189035139T>ACA349855321COL5A2c.4130A>T (p.His1377Leu)
c.2969A>T (p.His990Leu)
c.3992A>T (p.His1331Leu)
2g.189035139T>CCA349855323COL5A2c.4130A>G (p.His1377Arg)
c.2969A>G (p.His990Arg)
c.3992A>G (p.His1331Arg)
 dbSNP
2g.189035139T>GCA349855325COL5A2c.4130A>C (p.His1377Pro)
c.2969A>C (p.His990Pro)
c.3992A>C (p.His1331Pro)
2g.189035139T=CA1315422613COL5A2c.4130A= (p.His1377=)
c.2969A= (p.His990=)
c.3992A= (p.His1331=)
2g.189035140G>ACA349855334COL5A2c.4129C>T (p.His1377Tyr)
c.2968C>T (p.His990Tyr)
c.3991C>T (p.His1331Tyr)
2g.189035140G>CCA349855329COL5A2c.4129C>G (p.His1377Asp)
c.2968C>G (p.His990Asp)
c.3991C>G (p.His1331Asp)
2g.189035140G>TCA349855327COL5A2c.4129C>A (p.His1377Asn)
c.2968C>A (p.His990Asn)
c.3991C>A (p.His1331Asn)
2g.189035141G>ACA430444159COL5A2c.4128C>T (p.Asp1376=)
c.2967C>T (p.Asp989=)
c.3990C>T (p.Asp1330=)
2g.189035141G>CCA349855335COL5A2c.4128C>G (p.Asp1376Glu)
c.2967C>G (p.Asp989Glu)
c.3990C>G (p.Asp1330Glu)
2g.189035141G>TCA349855336COL5A2c.4128C>A (p.Asp1376Glu)
c.2967C>A (p.Asp989Glu)
c.3990C>A (p.Asp1330Glu)
2g.189035142T>ACA349855339COL5A2c.4127A>T (p.Asp1376Val)
c.2966A>T (p.Asp989Val)
c.3989A>T (p.Asp1330Val)
2g.189035142T>CCA349855341COL5A2c.4127A>G (p.Asp1376Gly)
c.2966A>G (p.Asp989Gly)
c.3989A>G (p.Asp1330Gly)
2g.189035142T>GCA349855343COL5A2c.4127A>C (p.Asp1376Ala)
c.2966A>C (p.Asp989Ala)
c.3989A>C (p.Asp1330Ala)
 dbSNP
2g.189035142T=CA1315422614COL5A2c.4127A= (p.Asp1376=)
c.2966A= (p.Asp989=)
c.3989A= (p.Asp1330=)
2g.189035143C>ACA349855345COL5A2c.4126G>T (p.Asp1376Tyr)
c.2965G>T (p.Asp989Tyr)
c.3988G>T (p.Asp1330Tyr)
2g.189035143C>GCA349855347COL5A2c.4126G>C (p.Asp1376His)
c.2965G>C (p.Asp989His)
c.3988G>C (p.Asp1330His)
2g.189035143C>TCA349855349COL5A2c.4126G>A (p.Asp1376Asn)
c.2965G>A (p.Asp989Asn)
c.3988G>A (p.Asp1330Asn)
2g.189035144T>ACA430444160COL5A2c.4125A>T (p.Gly1375=)
c.2964A>T (p.Gly988=)
c.3987A>T (p.Gly1329=)
2g.189035144T>CCA430444162COL5A2c.4125A>G (p.Gly1375=)
c.2964A>G (p.Gly988=)
c.3987A>G (p.Gly1329=)
2g.189035144T>GCA430444161COL5A2c.4125A>C (p.Gly1375=)
c.2964A>C (p.Gly988=)
c.3987A>C (p.Gly1329=)
2g.189035145C>ACA349855352COL5A2c.4124G>T (p.Gly1375Val)
c.2963G>T (p.Gly988Val)
c.3986G>T (p.Gly1329Val)
2g.189035145C>GCA349855353COL5A2c.4124G>C (p.Gly1375Ala)
c.2963G>C (p.Gly988Ala)
c.3986G>C (p.Gly1329Ala)
2g.189035145C>TCA349855355COL5A2c.4124G>A (p.Gly1375Glu)
c.2963G>A (p.Gly988Glu)
c.3986G>A (p.Gly1329Glu)
2g.189035146C>ACA349855357COL5A2c.4123G>T (p.Gly1375Ter)
c.2962G>T (p.Gly988Ter)
c.3985G>T (p.Gly1329Ter)
2g.189035146C>GCA349855360COL5A2c.4123G>C (p.Gly1375Arg)
c.2962G>C (p.Gly988Arg)
c.3985G>C (p.Gly1329Arg)
2g.189035146C>TCA349855361COL5A2c.4123G>A (p.Gly1375Arg)
c.2962G>A (p.Gly988Arg)
c.3985G>A (p.Gly1329Arg)
2g.189035147A>CCA349855364COL5A2c.4122T>G (p.Tyr1374Ter)
c.2961T>G (p.Tyr987Ter)
c.3984T>G (p.Tyr1328Ter)
2g.189035147A>GCA430444163COL5A2c.4122T>C (p.Tyr1374=)
c.2961T>C (p.Tyr987=)
c.3984T>C (p.Tyr1328=)
 ClinVar
2g.189035147A>TCA349855365COL5A2c.4122T>A (p.Tyr1374Ter)
c.2961T>A (p.Tyr987Ter)
c.3984T>A (p.Tyr1328Ter)
 COSMIC
2g.189035148T>ACA349855368COL5A2c.4121A>T (p.Tyr1374Phe)
c.2960A>T (p.Tyr987Phe)
c.3983A>T (p.Tyr1328Phe)
 gnomAD v4
2g.189035148T>CCA349855370COL5A2c.4121A>G (p.Tyr1374Cys)
c.2960A>G (p.Tyr987Cys)
c.3983A>G (p.Tyr1328Cys)
 gnomAD v4
2g.189035148T>GCA349855374COL5A2c.4121A>C (p.Tyr1374Ser)
c.2960A>C (p.Tyr987Ser)
c.3983A>C (p.Tyr1328Ser)
2g.189035149A>CCA349855377COL5A2c.4120T>G (p.Tyr1374Asp)
c.2959T>G (p.Tyr987Asp)
c.3982T>G (p.Tyr1328Asp)
2g.189035149A>GCA349855379COL5A2c.4120T>C (p.Tyr1374His)
c.2959T>C (p.Tyr987His)
c.3982T>C (p.Tyr1328His)
2g.189035149A>TCA349855380COL5A2c.4120T>A (p.Tyr1374Asn)
c.2959T>A (p.Tyr987Asn)
c.3982T>A (p.Tyr1328Asn)
2g.189035150A>CCA430444164COL5A2c.4119T>G (p.Ala1373=)
c.2958T>G (p.Ala986=)
c.3981T>G (p.Ala1327=)
2g.189035150A>GCA430444166COL5A2c.4119T>C (p.Ala1373=)
c.2958T>C (p.Ala986=)
c.3981T>C (p.Ala1327=)
2g.189035150A>TCA430444165COL5A2c.4119T>A (p.Ala1373=)
c.2958T>A (p.Ala986=)
c.3981T>A (p.Ala1327=)
2g.189035151G>ACA349855382COL5A2c.4118C>T (p.Ala1373Val)
c.2957C>T (p.Ala986Val)
c.3980C>T (p.Ala1327Val)
2g.189035151G>CCA349855384COL5A2c.4118C>G (p.Ala1373Gly)
c.2957C>G (p.Ala986Gly)
c.3980C>G (p.Ala1327Gly)
2g.189035151G>TCA349855386COL5A2c.4118C>A (p.Ala1373Asp)
c.2957C>A (p.Ala986Asp)
c.3980C>A (p.Ala1327Asp)
2g.189035152C>ACA349855389COL5A2c.4117G>T (p.Ala1373Ser)
c.2956G>T (p.Ala986Ser)
c.3979G>T (p.Ala1327Ser)
2g.189035152C=CA1315422615COL5A2c.4117G= (p.Ala1373=)
c.2956G= (p.Ala986=)
c.3979G= (p.Ala1327=)
2g.189035152C>GCA349855391COL5A2c.4117G>C (p.Ala1373Pro)
c.2956G>C (p.Ala986Pro)
c.3979G>C (p.Ala1327Pro)
2g.189035152C>TCA349855393COL5A2c.4117G>A (p.Ala1373Thr)
c.2956G>A (p.Ala986Thr)
c.3979G>A (p.Ala1327Thr)
 ClinVar dbSNP gnomAD v4
2g.189035153G>ACA2021841COL5A2c.4116C>T (p.Phe1372=)
c.2955C>T (p.Phe985=)
c.3978C>T (p.Phe1326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189035153G>CCA2021840COL5A2c.4116C>G (p.Phe1372Leu)
c.2955C>G (p.Phe985Leu)
c.3978C>G (p.Phe1326Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035153G=CA1315422616COL5A2c.4116C= (p.Phe1372=)
c.2955C= (p.Phe985=)
c.3978C= (p.Phe1326=)
2g.189035153G>TCA349855396COL5A2c.4116C>A (p.Phe1372Leu)
c.2955C>A (p.Phe985Leu)
c.3978C>A (p.Phe1326Leu)
2g.189035154A>CCA349855401COL5A2c.4115T>G (p.Phe1372Cys)
c.2954T>G (p.Phe985Cys)
c.3977T>G (p.Phe1326Cys)
2g.189035154A>GCA349855406COL5A2c.4115T>C (p.Phe1372Ser)
c.2954T>C (p.Phe985Ser)
c.3977T>C (p.Phe1326Ser)
2g.189035154A>TCA349855404COL5A2c.4115T>A (p.Phe1372Tyr)
c.2954T>A (p.Phe985Tyr)
c.3977T>A (p.Phe1326Tyr)
2g.189035155A>CCA349855408COL5A2c.4114T>G (p.Phe1372Val)
c.2953T>G (p.Phe985Val)
c.3976T>G (p.Phe1326Val)
2g.189035155A>GCA349855411COL5A2c.4114T>C (p.Phe1372Leu)
c.2953T>C (p.Phe985Leu)
c.3976T>C (p.Phe1326Leu)
2g.189035155A>TCA349855410COL5A2c.4114T>A (p.Phe1372Ile)
c.2953T>A (p.Phe985Ile)
c.3976T>A (p.Phe1326Ile)
2g.189035155_189035156delinsACCA1315422617COL5A2c.4114-1_4114delinsGT
c.2953-1_2953delinsGT
c.3976-1_3976delinsGT
2g.189035156delCA916734797COL5A2c.4114-1del (n.4114-1del)
c.2953-1del (n.2953-1del)
c.3976-1del (n.3976-1del)
 dbSNP
2g.189035156C>ACA349855415COL5A2c.4114-1G>T (n.4114-1G>T)
c.2953-1G>T (n.2953-1G>T)
c.3976-1G>T (n.3976-1G>T)
2g.189035156C>GCA349855419COL5A2c.4114-1G>C (n.4114-1G>C)
c.2953-1G>C (n.2953-1G>C)
c.3976-1G>C (n.3976-1G>C)
2g.189035156C>TCA349855417COL5A2c.4114-1G>A (n.4114-1G>A)
c.2953-1G>A (n.2953-1G>A)
c.3976-1G>A (n.3976-1G>A)
2g.189035157delCA645526999COL5A2c.4114-2del (n.4114-2del)
c.2953-2del (n.2953-2del)
c.3976-2del (n.3976-2del)
 COSMIC
2g.189035157T>ACA349855421COL5A2c.4114-2A>T (n.4114-2A>T)
c.2953-2A>T (n.2953-2A>T)
c.3976-2A>T (n.3976-2A>T)
2g.189035157T>CCA349855423COL5A2c.4114-2A>G (n.4114-2A>G)
c.2953-2A>G (n.2953-2A>G)
c.3976-2A>G (n.3976-2A>G)
2g.189035157T>GCA349855422COL5A2c.4114-2A>C (n.4114-2A>C)
c.2953-2A>C (n.2953-2A>C)
c.3976-2A>C (n.3976-2A>C)
2g.189035159G>ACA2577186004COL5A2c.4114-4C>T (n.4114-4C>T)
c.2953-4C>T (n.2953-4C>T)
c.3976-4C>T (n.3976-4C>T)
2g.189035159G>CCA2662312834COL5A2c.4114-4C>G (n.4114-4C>G)
c.2953-4C>G (n.2953-4C>G)
c.3976-4C>G (n.3976-4C>G)
 gnomAD v4
2g.189035160A>GCA2753582981COL5A2c.4114-5T>C (n.4114-5T>C)
c.2953-5T>C (n.2953-5T>C)
c.3976-5T>C (n.3976-5T>C)
2g.189035164dupCA2838280858COL5A2c.4114-5dup (n.4114-5dup)
c.2953-5dup (n.2953-5dup)
c.3976-5dup (n.3976-5dup)
2g.189035161A=CA1315422618COL5A2c.4114-6T= (n.4114-6T=)
c.2953-6T= (n.2953-6T=)
c.3976-6T= (n.3976-6T=)
2g.189035161A>GCA538463958COL5A2c.4114-6T>C (n.4114-6T>C)
c.2953-6T>C (n.2953-6T>C)
c.3976-6T>C (n.3976-6T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189035162A=CA1315422619COL5A2c.4114-7T= (n.4114-7T=)
c.2953-7T= (n.2953-7T=)
c.3976-7T= (n.3976-7T=)
2g.189035162A>GCA2021842COL5A2c.4114-7T>C (n.4114-7T>C)
c.2953-7T>C (n.2953-7T>C)
c.3976-7T>C (n.3976-7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035164A=CA1315422620COL5A2c.4114-9T= (n.4114-9T=)
c.2953-9T= (n.2953-9T=)
c.3976-9T= (n.3976-9T=)
2g.189035164A>GCA1315422621COL5A2c.4114-9T>C (n.4114-9T>C)
c.2953-9T>C (n.2953-9T>C)
c.3976-9T>C (n.3976-9T>C)
 dbSNP gnomAD v4
2g.189035165C>ACA2577186005COL5A2c.4114-10G>T (n.4114-10G>T)
c.2953-10G>T (n.2953-10G>T)
c.3976-10G>T (n.3976-10G>T)
2g.189035165_189035167delinsCAACA1315422622COL5A2c.4114-12_4114-10delinsTTG (n.4114-12_4114-10delinsTTG)
c.2953-12_2953-10delinsTTG (n.2953-12_2953-10delinsTTG)
c.3976-12_3976-10delinsTTG (n.3976-12_3976-10delinsTTG)
2g.189035166A=CA1315422623COL5A2c.4114-11T= (n.4114-11T=)
c.2953-11T= (n.2953-11T=)
c.3976-11T= (n.3976-11T=)
2g.189035166A>GCA290399COL5A2c.4114-11T>C (n.4114-11T>C)
c.2953-11T>C (n.2953-11T>C)
c.3976-11T>C (n.3976-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035167_189035168delCA538463959COL5A2c.4114-12_4114-11del (n.4114-12_4114-11del)
c.2953-12_2953-11del (n.2953-12_2953-11del)
c.3976-12_3976-11del (n.3976-12_3976-11del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189035167A>CCA2662312835COL5A2c.4114-12T>G (n.4114-12T>G)
c.2953-12T>G (n.2953-12T>G)
c.3976-12T>G (n.3976-12T>G)
 gnomAD v4
2g.189035167_189035169delinsAAGCA1315422624COL5A2c.4114-14_4114-12delinsCTT (n.4114-14_4114-12delinsCTT)
c.2953-14_2953-12delinsCTT (n.2953-14_2953-12delinsCTT)
c.3976-14_3976-12delinsCTT (n.3976-14_3976-12delinsCTT)
2g.189035170_189035171delCA2021843COL5A2c.4114-14_4114-13del (n.4114-14_4114-13del)
c.2953-14_2953-13del (n.2953-14_2953-13del)
c.3976-14_3976-13del (n.3976-14_3976-13del)
 dbSNP ExAC gnomAD v2
2g.189035169G>ACA538463960COL5A2c.4114-14C>T (n.4114-14C>T)
c.2953-14C>T (n.2953-14C>T)
c.3976-14C>T (n.3976-14C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189035169G>CCA2021844COL5A2c.4114-14C>G (n.4114-14C>G)
c.2953-14C>G (n.2953-14C>G)
c.3976-14C>G (n.3976-14C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035169G=CA1315422625COL5A2c.4114-14C= (n.4114-14C=)
c.2953-14C= (n.2953-14C=)
c.3976-14C= (n.3976-14C=)
2g.189035169G>TCA2021845COL5A2c.4114-14C>A (n.4114-14C>A)
c.2953-14C>A (n.2953-14C>A)
c.3976-14C>A (n.3976-14C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035170A=CA1315422626COL5A2c.4114-15T= (n.4114-15T=)
c.2953-15T= (n.2953-15T=)
c.3976-15T= (n.3976-15T=)
2g.189035170A>CCA62581478COL5A2c.4114-15T>G (n.4114-15T>G)
c.2953-15T>G (n.2953-15T>G)
c.3976-15T>G (n.3976-15T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189035170A>GCA2662312836COL5A2c.4114-15T>C (n.4114-15T>C)
c.2953-15T>C (n.2953-15T>C)
c.3976-15T>C (n.3976-15T>C)
 gnomAD v4
2g.189035171G>ACA2662312838COL5A2c.4114-16C>T (n.4114-16C>T)
c.2953-16C>T (n.2953-16C>T)
c.3976-16C>T (n.3976-16C>T)
 gnomAD v4
2g.189035171G>CCA2662312837COL5A2c.4114-16C>G (n.4114-16C>G)
c.2953-16C>G (n.2953-16C>G)
c.3976-16C>G (n.3976-16C>G)
 gnomAD v4
2g.189035171G=CA1315422627COL5A2c.4114-16C= (n.4114-16C=)
c.2953-16C= (n.2953-16C=)
c.3976-16C= (n.3976-16C=)
2g.189035171G>TCA2021846COL5A2c.4114-16C>A (n.4114-16C>A)
c.2953-16C>A (n.2953-16C>A)
c.3976-16C>A (n.3976-16C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035171_189035173delinsGTCCA1315422628COL5A2c.4114-18_4114-16delinsGAC (n.4114-18_4114-16delinsGAC)
c.2953-18_2953-16delinsGAC (n.2953-18_2953-16delinsGAC)
c.3976-18_3976-16delinsGAC (n.3976-18_3976-16delinsGAC)
2g.189035172T>ACA2662312839COL5A2c.4114-17A>T (n.4114-17A>T)
c.2953-17A>T (n.2953-17A>T)
c.3976-17A>T (n.3976-17A>T)
 gnomAD v4
2g.189035172T>CCA2021847COL5A2c.4114-17A>G (n.4114-17A>G)
c.2953-17A>G (n.2953-17A>G)
c.3976-17A>G (n.3976-17A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035172T=CA1315422629COL5A2c.4114-17A= (n.4114-17A=)
c.2953-17A= (n.2953-17A=)
c.3976-17A= (n.3976-17A=)
2g.189035173_189035174delCA658796129COL5A2c.4114-18_4114-17del (n.4114-18_4114-17del)
c.2953-18_2953-17del (n.2953-18_2953-17del)
c.3976-18_3976-17del (n.3976-18_3976-17del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189035173C>ACA2662312840COL5A2c.4114-18G>T (n.4114-18G>T)
c.2953-18G>T (n.2953-18G>T)
c.3976-18G>T (n.3976-18G>T)
 gnomAD v4
2g.189035173_189035175delinsCTTCA1315422630COL5A2c.4114-20_4114-18delinsAAG (n.4114-20_4114-18delinsAAG)
c.2953-20_2953-18delinsAAG (n.2953-20_2953-18delinsAAG)
c.3976-20_3976-18delinsAAG (n.3976-20_3976-18delinsAAG)
2g.189035174T>CCA762248286COL5A2c.4114-19A>G (n.4114-19A>G)
c.2953-19A>G (n.2953-19A>G)
c.3976-19A>G (n.3976-19A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189035174T=CA1315422631COL5A2c.4114-19A= (n.4114-19A=)
c.2953-19A= (n.2953-19A=)
c.3976-19A= (n.3976-19A=)
2g.189035175_189035176delCA2021848COL5A2c.4114-20_4114-19del (n.4114-20_4114-19del)
c.2953-20_2953-19del (n.2953-20_2953-19del)
c.3976-20_3976-19del (n.3976-20_3976-19del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035175T>CCA16604286COL5A2c.4114-20A>G (n.4114-20A>G)
c.2953-20A>G (n.2953-20A>G)
c.3976-20A>G (n.3976-20A>G)
 ClinVar dbSNP
2g.189035175T=CA1315422632COL5A2c.4114-20A= (n.4114-20A=)
c.2953-20A= (n.2953-20A=)
c.3976-20A= (n.3976-20A=)
2g.189035177G>ACA2662312841COL5A2c.4114-22C>T (n.4114-22C>T)
c.2953-22C>T (n.2953-22C>T)
c.3976-22C>T (n.3976-22C>T)
 gnomAD v4
2g.189035178T>GCA2662312842COL5A2c.4114-23A>C (n.4114-23A>C)
c.2953-23A>C (n.2953-23A>C)
c.3976-23A>C (n.3976-23A>C)
 gnomAD v4
2g.189035179C=CA1315422633COL5A2c.4114-24G= (n.4114-24G=)
c.2953-24G= (n.2953-24G=)
c.3976-24G= (n.3976-24G=)
2g.189035179C>TCA2021849COL5A2c.4114-24G>A (n.4114-24G>A)
c.2953-24G>A (n.2953-24G>A)
c.3976-24G>A (n.3976-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189035180A>GCA2753582982COL5A2c.4114-25T>C (n.4114-25T>C)
c.2953-25T>C (n.2953-25T>C)
c.3976-25T>C (n.3976-25T>C)
2g.189035181T>GCA2662312843COL5A2c.4114-26A>C (n.4114-26A>C)
c.2953-26A>C (n.2953-26A>C)
c.3976-26A>C (n.3976-26A>C)
 gnomAD v4
2g.189035182A=CA1315422634COL5A2c.4114-27T= (n.4114-27T=)
c.2953-27T= (n.2953-27T=)
c.3976-27T= (n.3976-27T=)
2g.189035182A>GCA2662312844COL5A2c.4114-27T>C (n.4114-27T>C)
c.2953-27T>C (n.2953-27T>C)
c.3976-27T>C (n.3976-27T>C)
 gnomAD v4
2g.189035182A>TCA62581496COL5A2c.4114-27T>A (n.4114-27T>A)
c.2953-27T>A (n.2953-27T>A)
c.3976-27T>A (n.3976-27T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189035183C>TCA2701311847COL5A2c.4114-28G>A (n.4114-28G>A)
c.2953-28G>A (n.2953-28G>A)
c.3976-28G>A (n.3976-28G>A)
 dbSNP
2g.189035184A=CA1315422635COL5A2c.4114-29T= (n.4114-29T=)
c.2953-29T= (n.2953-29T=)
c.3976-29T= (n.3976-29T=)
2g.189035184A>CCA762248298COL5A2c.4114-29T>G (n.4114-29T>G)
c.2953-29T>G (n.2953-29T>G)
c.3976-29T>G (n.3976-29T>G)
 dbSNP gnomAD v4
2g.189035185C>ACA2662312845COL5A2c.4114-30G>T (n.4114-30G>T)
c.2953-30G>T (n.2953-30G>T)
c.3976-30G>T (n.3976-30G>T)
 gnomAD v4
2g.189035185C=CA1315422636COL5A2c.4114-30G= (n.4114-30G=)
c.2953-30G= (n.2953-30G=)
c.3976-30G= (n.3976-30G=)
2g.189035185C>GCA1040402667COL5A2c.4114-30G>C (n.4114-30G>C)
c.2953-30G>C (n.2953-30G>C)
c.3976-30G>C (n.3976-30G>C)
 gnomAD v3 gnomAD v4
2g.189035185C>TCA538463961COL5A2c.4114-30G>A (n.4114-30G>A)
c.2953-30G>A (n.2953-30G>A)
c.3976-30G>A (n.3976-30G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189035188G>CCA2021850COL5A2c.4114-33C>G (n.4114-33C>G)
c.2953-33C>G (n.2953-33C>G)
c.3976-33C>G (n.3976-33C>G)
 dbSNP ExAC gnomAD v2
2g.189035188G=CA1315422637COL5A2c.4114-33C= (n.4114-33C=)
c.2953-33C= (n.2953-33C=)
c.3976-33C= (n.3976-33C=)
2g.189035189A>GCA2662312846COL5A2c.4114-34T>C (n.4114-34T>C)
c.2953-34T>C (n.2953-34T>C)
c.3976-34T>C (n.3976-34T>C)
 gnomAD v4
2g.189035191T>CCA1315422639COL5A2c.4114-36A>G (n.4114-36A>G)
c.2953-36A>G (n.2953-36A>G)
c.3976-36A>G (n.3976-36A>G)
 dbSNP
2g.189035191T=CA1315422638COL5A2c.4114-36A= (n.4114-36A=)
c.2953-36A= (n.2953-36A=)
c.3976-36A= (n.3976-36A=)
2g.189035195G>ACA1315422641COL5A2c.4114-40C>T (n.4114-40C>T)
c.2953-40C>T (n.2953-40C>T)
c.3976-40C>T (n.3976-40C>T)
 dbSNP gnomAD v4
2g.189035195G=CA1315422640COL5A2c.4114-40C= (n.4114-40C=)
c.2953-40C= (n.2953-40C=)
c.3976-40C= (n.3976-40C=)
2g.189035196G>ACA2021851COL5A2c.4114-41C>T (n.4114-41C>T)
c.2953-41C>T (n.2953-41C>T)
c.3976-41C>T (n.3976-41C>T)
 dbSNP ExAC gnomAD v2
2g.189035196G=CA1315422642COL5A2c.4114-41C= (n.4114-41C=)
c.2953-41C= (n.2953-41C=)
c.3976-41C= (n.3976-41C=)
2g.189035196G>TCA62581512COL5A2c.4114-41C>A (n.4114-41C>A)
c.2953-41C>A (n.2953-41C>A)
c.3976-41C>A (n.3976-41C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189035201C>TCA2577186006COL5A2c.4114-46G>A (n.4114-46G>A)
c.2953-46G>A (n.2953-46G>A)
c.3976-46G>A (n.3976-46G>A)
 gnomAD v4
2g.189035202A=CA1315422643COL5A2c.4114-47T= (n.4114-47T=)
c.2953-47T= (n.2953-47T=)
c.3976-47T= (n.3976-47T=)
2g.189035202A>CCA1315422644COL5A2c.4114-47T>G (n.4114-47T>G)
c.2953-47T>G (n.2953-47T>G)
c.3976-47T>G (n.3976-47T>G)
 dbSNP gnomAD v4
2g.189035202A>GCA62581513COL5A2c.4114-47T>C (n.4114-47T>C)
c.2953-47T>C (n.2953-47T>C)
c.3976-47T>C (n.3976-47T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189035203T>CCA2662312847COL5A2c.4114-48A>G (n.4114-48A>G)
c.2953-48A>G (n.2953-48A>G)
c.3976-48A>G (n.3976-48A>G)
 gnomAD v4
2g.189035206T>CCA1040402674COL5A2c.4114-51A>G (n.4114-51A>G)
c.2953-51A>G (n.2953-51A>G)
c.3976-51A>G (n.3976-51A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189035206T>GCA62581514COL5A2c.4114-51A>C (n.4114-51A>C)
c.2953-51A>C (n.2953-51A>C)
c.3976-51A>C (n.3976-51A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189035206T=CA1315422645COL5A2c.4114-51A= (n.4114-51A=)
c.2953-51A= (n.2953-51A=)
c.3976-51A= (n.3976-51A=)
2g.189035208C>ACA1315422647COL5A2c.4114-53G>T (n.4114-53G>T)
c.2953-53G>T (n.2953-53G>T)
c.3976-53G>T (n.3976-53G>T)
 dbSNP gnomAD v4
2g.189035208C=CA1315422646COL5A2c.4114-53G= (n.4114-53G=)
c.2953-53G= (n.2953-53G=)
c.3976-53G= (n.3976-53G=)
2g.189035208C>TCA2662312848COL5A2c.4114-53G>A (n.4114-53G>A)
c.2953-53G>A (n.2953-53G>A)
c.3976-53G>A (n.3976-53G>A)
 gnomAD v4
2g.189035209C=CA1315422648COL5A2c.4114-54G= (n.4114-54G=)
c.2953-54G= (n.2953-54G=)
c.3976-54G= (n.3976-54G=)
2g.189035209C>TCA62581529COL5A2c.4114-54G>A (n.4114-54G>A)
c.2953-54G>A (n.2953-54G>A)
c.3976-54G>A (n.3976-54G>A)
 dbSNP gnomAD v4
2g.189035210T>CCA2577186008COL5A2c.4114-55A>G (n.4114-55A>G)
c.2953-55A>G (n.2953-55A>G)
c.3976-55A>G (n.3976-55A>G)
2g.189035211delCA2577186007COL5A2c.4114-55del (n.4114-55del)
c.2953-55del (n.2953-55del)
c.3976-55del (n.3976-55del)

Number of alleles fetched