Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189061500_189068944dupCA2580616652COL5A2c.1159-60_2031+62dup
c.359-2511_870+62dup
c.1021-60_1893+62dup
2g.189066362A>CCA2662315370COL5A2c.1563+28T>G (n.1563+28T>G)
c.402+28T>G (n.402+28T>G)
c.1425+28T>G (n.1425+28T>G)
 gnomAD v4
2g.189066364G>ACA2577186821COL5A2c.1563+26C>T (n.1563+26C>T)
c.402+26C>T (n.402+26C>T)
c.1425+26C>T (n.1425+26C>T)
 gnomAD v4
2g.189066364G>CCA2662315371COL5A2c.1563+26C>G (n.1563+26C>G)
c.402+26C>G (n.402+26C>G)
c.1425+26C>G (n.1425+26C>G)
 gnomAD v4
2g.189066364G>TCA2662315372COL5A2c.1563+26C>A (n.1563+26C>A)
c.402+26C>A (n.402+26C>A)
c.1425+26C>A (n.1425+26C>A)
 gnomAD v4
2g.189066365A=CA1315431850COL5A2c.1563+25T= (n.1563+25T=)
c.402+25T= (n.402+25T=)
c.1425+25T= (n.1425+25T=)
2g.189066365A>GCA1315431851COL5A2c.1563+25T>C (n.1563+25T>C)
c.402+25T>C (n.402+25T>C)
c.1425+25T>C (n.1425+25T>C)
 dbSNP gnomAD v4
2g.189066367T>CCA2022669COL5A2c.1563+23A>G (n.1563+23A>G)
c.402+23A>G (n.402+23A>G)
c.1425+23A>G (n.1425+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066367T=CA1315431852COL5A2c.1563+23A= (n.1563+23A=)
c.402+23A= (n.402+23A=)
c.1425+23A= (n.1425+23A=)
2g.189066368G=CA1315431853COL5A2c.1563+22C= (n.1563+22C=)
c.402+22C= (n.402+22C=)
c.1425+22C= (n.1425+22C=)
2g.189066368G>TCA2022670COL5A2c.1563+22C>A (n.1563+22C>A)
c.402+22C>A (n.402+22C>A)
c.1425+22C>A (n.1425+22C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066370G>ACA2662315373COL5A2c.1563+20C>T (n.1563+20C>T)
c.402+20C>T (n.402+20C>T)
c.1425+20C>T (n.1425+20C>T)
 gnomAD v4
2g.189066370G>TCA2662315374COL5A2c.1563+20C>A (n.1563+20C>A)
c.402+20C>A (n.402+20C>A)
c.1425+20C>A (n.1425+20C>A)
 gnomAD v4
2g.189066371T>CCA2022671COL5A2c.1563+19A>G (n.1563+19A>G)
c.402+19A>G (n.402+19A>G)
c.1425+19A>G (n.1425+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066371T=CA1315431854COL5A2c.1563+19A= (n.1563+19A=)
c.402+19A= (n.402+19A=)
c.1425+19A= (n.1425+19A=)
2g.189066373G>ACA2662315375COL5A2c.1563+17C>T (n.1563+17C>T)
c.402+17C>T (n.402+17C>T)
c.1425+17C>T (n.1425+17C>T)
 gnomAD v4
2g.189066373G>CCA2662315376COL5A2c.1563+17C>G (n.1563+17C>G)
c.402+17C>G (n.402+17C>G)
c.1425+17C>G (n.1425+17C>G)
 gnomAD v4
2g.189066373G>TCA2662315377COL5A2c.1563+17C>A (n.1563+17C>A)
c.402+17C>A (n.402+17C>A)
c.1425+17C>A (n.1425+17C>A)
 gnomAD v4
2g.189066374T>ACA2662315378COL5A2c.1563+16A>T (n.1563+16A>T)
c.402+16A>T (n.402+16A>T)
c.1425+16A>T (n.1425+16A>T)
 gnomAD v4
2g.189066374T>CCA1040417419COL5A2c.1563+16A>G (n.1563+16A>G)
c.402+16A>G (n.402+16A>G)
c.1425+16A>G (n.1425+16A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189066374T=CA1315431855COL5A2c.1563+16A= (n.1563+16A=)
c.402+16A= (n.402+16A=)
c.1425+16A= (n.1425+16A=)
2g.189066375A>GCA2662315379COL5A2c.1563+15T>C (n.1563+15T>C)
c.402+15T>C (n.402+15T>C)
c.1425+15T>C (n.1425+15T>C)
 gnomAD v4
2g.189066378A>GCA2662315380COL5A2c.1563+12T>C (n.1563+12T>C)
c.402+12T>C (n.402+12T>C)
c.1425+12T>C (n.1425+12T>C)
 gnomAD v4
2g.189066379T>CCA2580065372COL5A2c.1563+11A>G (n.1563+11A>G)
c.402+11A>G (n.402+11A>G)
c.1425+11A>G (n.1425+11A>G)
 ClinVar gnomAD v4
2g.189066385T>CCA16604082COL5A2c.1563+5A>G (n.1563+5A>G)
c.402+5A>G (n.402+5A>G)
c.1425+5A>G (n.1425+5A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189066385T=CA1315431856COL5A2c.1563+5A= (n.1563+5A=)
c.402+5A= (n.402+5A=)
c.1425+5A= (n.1425+5A=)
2g.189066386T>ACA762243918COL5A2c.1563+4A>T (n.1563+4A>T)
c.402+4A>T (n.402+4A>T)
c.1425+4A>T (n.1425+4A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189066386T=CA1315431857COL5A2c.1563+4A= (n.1563+4A=)
c.402+4A= (n.402+4A=)
c.1425+4A= (n.1425+4A=)
2g.189066388A>CCA349851087COL5A2c.1563+2T>G (n.1563+2T>G)
c.402+2T>G (n.402+2T>G)
c.1425+2T>G (n.1425+2T>G)
 ClinVar
2g.189066388A>GCA349851088COL5A2c.1563+2T>C (n.1563+2T>C)
c.402+2T>C (n.402+2T>C)
c.1425+2T>C (n.1425+2T>C)
 gnomAD v4
2g.189066388A>TCA349851089COL5A2c.1563+2T>A (n.1563+2T>A)
c.402+2T>A (n.402+2T>A)
c.1425+2T>A (n.1425+2T>A)
2g.189066389C>ACA349851090COL5A2c.1563+1G>T (n.1563+1G>T)
c.402+1G>T (n.402+1G>T)
c.1425+1G>T (n.1425+1G>T)
2g.189066389C>GCA349851091COL5A2c.1563+1G>C (n.1563+1G>C)
c.402+1G>C (n.402+1G>C)
c.1425+1G>C (n.1425+1G>C)
2g.189066389C>TCA349851092COL5A2c.1563+1G>A (n.1563+1G>A)
c.402+1G>A (n.402+1G>A)
c.1425+1G>A (n.1425+1G>A)
2g.189066390C>ACA349851093COL5A2c.1563G>T (p.Arg521Ser)
c.402G>T (p.Arg134Ser)
c.1425G>T (p.Arg475Ser)
2g.189066390C>GCA349851094COL5A2c.1563G>C (p.Arg521Ser)
c.402G>C (p.Arg134Ser)
c.1425G>C (p.Arg475Ser)
2g.189066390C>TCA430303241COL5A2c.1563G>A (p.Arg521=)
c.402G>A (p.Arg134=)
c.1425G>A (p.Arg475=)
2g.189066391C>ACA349851095COL5A2c.1562G>T (p.Arg521Met)
c.401G>T (p.Arg134Met)
c.1424G>T (p.Arg475Met)
2g.189066391C=CA1315431858COL5A2c.1562G= (p.Arg521=)
c.401G= (p.Arg134=)
c.1424G= (p.Arg475=)
2g.189066391C>GCA62555394COL5A2c.1562G>C (p.Arg521Thr)
c.401G>C (p.Arg134Thr)
c.1424G>C (p.Arg475Thr)
 dbSNP gnomAD v4
2g.189066391C>TCA2022672COL5A2c.1562G>A (p.Arg521Lys)
c.401G>A (p.Arg134Lys)
c.1424G>A (p.Arg475Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066392T>ACA349851096COL5A2c.1561A>T (p.Arg521Trp)
c.400A>T (p.Arg134Trp)
c.1423A>T (p.Arg475Trp)
2g.189066392T>CCA349851097COL5A2c.1561A>G (p.Arg521Gly)
c.400A>G (p.Arg134Gly)
c.1423A>G (p.Arg475Gly)
 ClinVar gnomAD v4
2g.189066392T>GCA430303242COL5A2c.1561A>C (p.Arg521=)
c.400A>C (p.Arg134=)
c.1423A>C (p.Arg475=)
2g.189066393T>ACA349851098COL5A2c.1560A>T (p.Glu520Asp)
c.399A>T (p.Glu133Asp)
c.1422A>T (p.Glu474Asp)
2g.189066393T>CCA430303243COL5A2c.1560A>G (p.Glu520=)
c.399A>G (p.Glu133=)
c.1422A>G (p.Glu474=)
 COSMIC
2g.189066393T>GCA349851099COL5A2c.1560A>C (p.Glu520Asp)
c.399A>C (p.Glu133Asp)
c.1422A>C (p.Glu474Asp)
2g.189066394T>ACA349851102COL5A2c.1559A>T (p.Glu520Val)
c.398A>T (p.Glu133Val)
c.1421A>T (p.Glu474Val)
2g.189066394T>CCA349851104COL5A2c.1559A>G (p.Glu520Gly)
c.398A>G (p.Glu133Gly)
c.1421A>G (p.Glu474Gly)
2g.189066394T>GCA349851105COL5A2c.1559A>C (p.Glu520Ala)
c.398A>C (p.Glu133Ala)
c.1421A>C (p.Glu474Ala)
2g.189066395C>ACA349851107COL5A2c.1558G>T (p.Glu520Ter)
c.397G>T (p.Glu133Ter)
c.1420G>T (p.Glu474Ter)
2g.189066395C=CA1315431859COL5A2c.1558G= (p.Glu520=)
c.397G= (p.Glu133=)
c.1420G= (p.Glu474=)
2g.189066395C>GCA349851109COL5A2c.1558G>C (p.Glu520Gln)
c.397G>C (p.Glu133Gln)
c.1420G>C (p.Glu474Gln)
2g.189066395C>TCA349851110COL5A2c.1558G>A (p.Glu520Lys)
c.397G>A (p.Glu133Lys)
c.1420G>A (p.Glu474Lys)
 dbSNP
2g.189066396T>ACA430303244COL5A2c.1557A>T (p.Gly519=)
c.396A>T (p.Gly132=)
c.1419A>T (p.Gly473=)
2g.189066396T>CCA430303245COL5A2c.1557A>G (p.Gly519=)
c.396A>G (p.Gly132=)
c.1419A>G (p.Gly473=)
 dbSNP gnomAD v3 gnomAD v4
2g.189066396T>GCA430303246COL5A2c.1557A>C (p.Gly519=)
c.396A>C (p.Gly132=)
c.1419A>C (p.Gly473=)
2g.189066396T=CA1315431860COL5A2c.1557A= (p.Gly519=)
c.396A= (p.Gly132=)
c.1419A= (p.Gly473=)
2g.189066397C>ACA349851113COL5A2c.1556G>T (p.Gly519Val)
c.395G>T (p.Gly132Val)
c.1418G>T (p.Gly473Val)
2g.189066397C>GCA349851116COL5A2c.1556G>C (p.Gly519Ala)
c.395G>C (p.Gly132Ala)
c.1418G>C (p.Gly473Ala)
2g.189066397C>TCA349851114COL5A2c.1556G>A (p.Gly519Glu)
c.395G>A (p.Gly132Glu)
c.1418G>A (p.Gly473Glu)
2g.189066398C>ACA349851118COL5A2c.1555G>T (p.Gly519Ter)
c.394G>T (p.Gly132Ter)
c.1417G>T (p.Gly473Ter)
2g.189066398C>GCA349851120COL5A2c.1555G>C (p.Gly519Arg)
c.394G>C (p.Gly132Arg)
c.1417G>C (p.Gly473Arg)
2g.189066398C>TCA349851121COL5A2c.1555G>A (p.Gly519Arg)
c.394G>A (p.Gly132Arg)
c.1417G>A (p.Gly473Arg)
 ClinVar
2g.189066399C>ACA430303248COL5A2c.1554G>T (p.Val518=)
c.393G>T (p.Val131=)
c.1416G>T (p.Val472=)
2g.189066399C>GCA430303249COL5A2c.1554G>C (p.Val518=)
c.393G>C (p.Val131=)
c.1416G>C (p.Val472=)
2g.189066399C>TCA430303250COL5A2c.1554G>A (p.Val518=)
c.393G>A (p.Val131=)
c.1416G>A (p.Val472=)
2g.189066400A>CCA349851123COL5A2c.1553T>G (p.Val518Gly)
c.392T>G (p.Val131Gly)
c.1415T>G (p.Val472Gly)
2g.189066400A>GCA349851125COL5A2c.1553T>C (p.Val518Ala)
c.392T>C (p.Val131Ala)
c.1415T>C (p.Val472Ala)
2g.189066400A>TCA349851127COL5A2c.1553T>A (p.Val518Glu)
c.392T>A (p.Val131Glu)
c.1415T>A (p.Val472Glu)
2g.189066401C>ACA349851130COL5A2c.1552G>T (p.Val518Leu)
c.391G>T (p.Val131Leu)
c.1414G>T (p.Val472Leu)
2g.189066401C>GCA349851132COL5A2c.1552G>C (p.Val518Leu)
c.391G>C (p.Val131Leu)
c.1414G>C (p.Val472Leu)
2g.189066401C>TCA349851133COL5A2c.1552G>A (p.Val518Met)
c.391G>A (p.Val131Met)
c.1414G>A (p.Val472Met)
2g.189066402T>ACA430303251COL5A2c.1551A>T (p.Pro517=)
c.390A>T (p.Pro130=)
c.1413A>T (p.Pro471=)
2g.189066402T>CCA430303252COL5A2c.1551A>G (p.Pro517=)
c.390A>G (p.Pro130=)
c.1413A>G (p.Pro471=)
2g.189066402T>GCA430303253COL5A2c.1551A>C (p.Pro517=)
c.390A>C (p.Pro130=)
c.1413A>C (p.Pro471=)
2g.189066403G>ACA2022673COL5A2c.1550C>T (p.Pro517Leu)
c.389C>T (p.Pro130Leu)
c.1412C>T (p.Pro471Leu)
 ClinVar dbSNP ExAC gnomAD v4
2g.189066403G>CCA349851136COL5A2c.1550C>G (p.Pro517Arg)
c.389C>G (p.Pro130Arg)
c.1412C>G (p.Pro471Arg)
2g.189066403G=CA1315431861COL5A2c.1550C= (p.Pro517=)
c.389C= (p.Pro130=)
c.1412C= (p.Pro471=)
2g.189066403G>TCA62555401COL5A2c.1550C>A (p.Pro517Gln)
c.389C>A (p.Pro130Gln)
c.1412C>A (p.Pro471Gln)
 dbSNP
2g.189066404G>ACA349851142COL5A2c.1549C>T (p.Pro517Ser)
c.388C>T (p.Pro130Ser)
c.1411C>T (p.Pro471Ser)
 gnomAD v4 COSMIC
2g.189066404G>CCA349851145COL5A2c.1549C>G (p.Pro517Ala)
c.388C>G (p.Pro130Ala)
c.1411C>G (p.Pro471Ala)
2g.189066404G=CA1315431862COL5A2c.1549C= (p.Pro517=)
c.388C= (p.Pro130=)
c.1411C= (p.Pro471=)
2g.189066404G>TCA349851140COL5A2c.1549C>A (p.Pro517Thr)
c.388C>A (p.Pro130Thr)
c.1411C>A (p.Pro471Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.189066405C>ACA430303255COL5A2c.1548G>T (p.Gly516=)
c.387G>T (p.Gly129=)
c.1410G>T (p.Gly470=)
2g.189066405C>GCA430303256COL5A2c.1548G>C (p.Gly516=)
c.387G>C (p.Gly129=)
c.1410G>C (p.Gly470=)
2g.189066405C>TCA430303257COL5A2c.1548G>A (p.Gly516=)
c.387G>A (p.Gly129=)
c.1410G>A (p.Gly470=)
 gnomAD v4
2g.189066406C>ACA349851147COL5A2c.1547G>T (p.Gly516Val)
c.386G>T (p.Gly129Val)
c.1409G>T (p.Gly470Val)
2g.189066406C>GCA349851149COL5A2c.1547G>C (p.Gly516Ala)
c.386G>C (p.Gly129Ala)
c.1409G>C (p.Gly470Ala)
2g.189066406C>TCA349851150COL5A2c.1547G>A (p.Gly516Glu)
c.386G>A (p.Gly129Glu)
c.1409G>A (p.Gly470Glu)
2g.189066407C>ACA349851152COL5A2c.1546G>T (p.Gly516Trp)
c.385G>T (p.Gly129Trp)
c.1408G>T (p.Gly470Trp)
 COSMIC
2g.189066407C>GCA349851154COL5A2c.1546G>C (p.Gly516Arg)
c.385G>C (p.Gly129Arg)
c.1408G>C (p.Gly470Arg)
2g.189066407C>TCA349851156COL5A2c.1546G>A (p.Gly516Arg)
c.385G>A (p.Gly129Arg)
c.1408G>A (p.Gly470Arg)
2g.189066408T>ACA430303260COL5A2c.1545A>T (p.Pro515=)
c.384A>T (p.Pro128=)
c.1407A>T (p.Pro469=)
2g.189066408T>CCA430303259COL5A2c.1545A>G (p.Pro515=)
c.384A>G (p.Pro128=)
c.1407A>G (p.Pro469=)
 gnomAD v4
2g.189066408T>GCA430303258COL5A2c.1545A>C (p.Pro515=)
c.384A>C (p.Pro128=)
c.1407A>C (p.Pro469=)
2g.189066409G>ACA2022674COL5A2c.1544C>T (p.Pro515Leu)
c.383C>T (p.Pro128Leu)
c.1406C>T (p.Pro469Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066409G>CCA349851162COL5A2c.1544C>G (p.Pro515Arg)
c.383C>G (p.Pro128Arg)
c.1406C>G (p.Pro469Arg)
2g.189066409G=CA1315431863COL5A2c.1544C= (p.Pro515=)
c.383C= (p.Pro128=)
c.1406C= (p.Pro469=)
2g.189066409G>TCA349851160COL5A2c.1544C>A (p.Pro515Gln)
c.383C>A (p.Pro128Gln)
c.1406C>A (p.Pro469Gln)
2g.189066410G>ACA349851165COL5A2c.1543C>T (p.Pro515Ser)
c.382C>T (p.Pro128Ser)
c.1405C>T (p.Pro469Ser)
 gnomAD v4
2g.189066410G>CCA349851166COL5A2c.1543C>G (p.Pro515Ala)
c.382C>G (p.Pro128Ala)
c.1405C>G (p.Pro469Ala)
2g.189066410G>TCA349851168COL5A2c.1543C>A (p.Pro515Thr)
c.382C>A (p.Pro128Thr)
c.1405C>A (p.Pro469Thr)
2g.189066411A=CA1315431864COL5A2c.1542T= (p.Pro514=)
c.381T= (p.Pro127=)
c.1404T= (p.Pro468=)
2g.189066411A>CCA430303261COL5A2c.1542T>G (p.Pro514=)
c.381T>G (p.Pro127=)
c.1404T>G (p.Pro468=)
2g.189066411A>GCA2022675COL5A2c.1542T>C (p.Pro514=)
c.381T>C (p.Pro127=)
c.1404T>C (p.Pro468=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066411A>TCA430303262COL5A2c.1542T>A (p.Pro514=)
c.381T>A (p.Pro127=)
c.1404T>A (p.Pro468=)
2g.189066412G>ACA349851172COL5A2c.1541C>T (p.Pro514Leu)
c.380C>T (p.Pro127Leu)
c.1403C>T (p.Pro468Leu)
 ClinVar dbSNP gnomAD v4
2g.189066412G>CCA349851176COL5A2c.1541C>G (p.Pro514Arg)
c.380C>G (p.Pro127Arg)
c.1403C>G (p.Pro468Arg)
2g.189066412G=CA1315431865COL5A2c.1541C= (p.Pro514=)
c.380C= (p.Pro127=)
c.1403C= (p.Pro468=)
2g.189066412G>TCA349851174COL5A2c.1541C>A (p.Pro514His)
c.380C>A (p.Pro127His)
c.1403C>A (p.Pro468His)
2g.189066413dupCA2586970979COL5A2c.1541dup (p.Pro515SerfsTer19)
c.380dup (p.Pro128SerfsTer19)
c.1403dup (p.Pro469SerfsTer19)
2g.189066413G>ACA349851178COL5A2c.1540C>T (p.Pro514Ser)
c.379C>T (p.Pro127Ser)
c.1402C>T (p.Pro468Ser)
2g.189066413G>CCA349851182COL5A2c.1540C>G (p.Pro514Ala)
c.379C>G (p.Pro127Ala)
c.1402C>G (p.Pro468Ala)
 dbSNP
2g.189066413G=CA1315431866COL5A2c.1540C= (p.Pro514=)
c.379C= (p.Pro127=)
c.1402C= (p.Pro468=)
2g.189066413G>TCA349851180COL5A2c.1540C>A (p.Pro514Thr)
c.379C>A (p.Pro127Thr)
c.1402C>A (p.Pro468Thr)
2g.189066414A=CA1315431867COL5A2c.1539T= (p.Gly513=)
c.378T= (p.Gly126=)
c.1401T= (p.Gly467=)
2g.189066414A>CCA430303264COL5A2c.1539T>G (p.Gly513=)
c.378T>G (p.Gly126=)
c.1401T>G (p.Gly467=)
2g.189066414A>GCA430303265COL5A2c.1539T>C (p.Gly513=)
c.378T>C (p.Gly126=)
c.1401T>C (p.Gly467=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189066414A>TCA430303266COL5A2c.1539T>A (p.Gly513=)
c.378T>A (p.Gly126=)
c.1401T>A (p.Gly467=)
 dbSNP gnomAD v3 gnomAD v4
2g.189066415C>ACA349851184COL5A2c.1538G>T (p.Gly513Val)
c.377G>T (p.Gly126Val)
c.1400G>T (p.Gly467Val)
2g.189066415C>GCA349851186COL5A2c.1538G>C (p.Gly513Ala)
c.377G>C (p.Gly126Ala)
c.1400G>C (p.Gly467Ala)
2g.189066415C>TCA349851187COL5A2c.1538G>A (p.Gly513Asp)
c.377G>A (p.Gly126Asp)
c.1400G>A (p.Gly467Asp)
2g.189066416C>ACA349851191COL5A2c.1537G>T (p.Gly513Cys)
c.376G>T (p.Gly126Cys)
c.1399G>T (p.Gly467Cys)
2g.189066416C>GCA349851192COL5A2c.1537G>C (p.Gly513Arg)
c.376G>C (p.Gly126Arg)
c.1399G>C (p.Gly467Arg)
2g.189066416C>TCA349851195COL5A2c.1537G>A (p.Gly513Ser)
c.376G>A (p.Gly126Ser)
c.1399G>A (p.Gly467Ser)
2g.189066417A>CCA430303267COL5A2c.1536T>G (p.Val512=)
c.375T>G (p.Val125=)
c.1398T>G (p.Val466=)
2g.189066417A>GCA430303268COL5A2c.1536T>C (p.Val512=)
c.375T>C (p.Val125=)
c.1398T>C (p.Val466=)
2g.189066417A>TCA430303269COL5A2c.1536T>A (p.Val512=)
c.375T>A (p.Val125=)
c.1398T>A (p.Val466=)
2g.189066418A=CA1315431868COL5A2c.1535T= (p.Val512=)
c.374T= (p.Val125=)
c.1397T= (p.Val466=)
2g.189066418A>CCA349851197COL5A2c.1535T>G (p.Val512Gly)
c.374T>G (p.Val125Gly)
c.1397T>G (p.Val466Gly)
2g.189066418A>GCA290376COL5A2c.1535T>C (p.Val512Ala)
c.374T>C (p.Val125Ala)
c.1397T>C (p.Val466Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066418A>TCA349851201COL5A2c.1535T>A (p.Val512Asp)
c.374T>A (p.Val125Asp)
c.1397T>A (p.Val466Asp)
2g.189066419C>ACA349851203COL5A2c.1534G>T (p.Val512Phe)
c.373G>T (p.Val125Phe)
c.1396G>T (p.Val466Phe)
2g.189066419C=CA1315431869COL5A2c.1534G= (p.Val512=)
c.373G= (p.Val125=)
c.1396G= (p.Val466=)
2g.189066419C>GCA349851205COL5A2c.1534G>C (p.Val512Leu)
c.373G>C (p.Val125Leu)
c.1396G>C (p.Val466Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.189066419C>TCA16042378COL5A2c.1534G>A (p.Val512Ile)
c.373G>A (p.Val125Ile)
c.1396G>A (p.Val466Ile)
 ClinVar dbSNP gnomAD v4
2g.189066420T>ACA430303272COL5A2c.1533A>T (p.Thr511=)
c.372A>T (p.Thr124=)
c.1395A>T (p.Thr465=)
2g.189066420T>CCA430303271COL5A2c.1533A>G (p.Thr511=)
c.372A>G (p.Thr124=)
c.1395A>G (p.Thr465=)
 gnomAD v4
2g.189066420T>GCA430303270COL5A2c.1533A>C (p.Thr511=)
c.372A>C (p.Thr124=)
c.1395A>C (p.Thr465=)
2g.189066421G>ACA2022676COL5A2c.1532C>T (p.Thr511Ile)
c.371C>T (p.Thr124Ile)
c.1394C>T (p.Thr465Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066421G>CCA2022677COL5A2c.1532C>G (p.Thr511Arg)
c.371C>G (p.Thr124Arg)
c.1394C>G (p.Thr465Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066421G=CA1315431870COL5A2c.1532C= (p.Thr511=)
c.371C= (p.Thr124=)
c.1394C= (p.Thr465=)
2g.189066421G>TCA349851209COL5A2c.1532C>A (p.Thr511Lys)
c.371C>A (p.Thr124Lys)
c.1394C>A (p.Thr465Lys)
2g.189066422T>ACA349851213COL5A2c.1531A>T (p.Thr511Ser)
c.370A>T (p.Thr124Ser)
c.1393A>T (p.Thr465Ser)
2g.189066422T>CCA349851214COL5A2c.1531A>G (p.Thr511Ala)
c.370A>G (p.Thr124Ala)
c.1393A>G (p.Thr465Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189066422T>GCA349851217COL5A2c.1531A>C (p.Thr511Pro)
c.370A>C (p.Thr124Pro)
c.1393A>C (p.Thr465Pro)
2g.189066422T=CA1315431871COL5A2c.1531A= (p.Thr511=)
c.370A= (p.Thr124=)
c.1393A= (p.Thr465=)
2g.189066423T>ACA430303275COL5A2c.1530A>T (p.Gly510=)
c.369A>T (p.Gly123=)
c.1392A>T (p.Gly464=)
2g.189066423T>CCA430303276COL5A2c.1530A>G (p.Gly510=)
c.369A>G (p.Gly123=)
c.1392A>G (p.Gly464=)
2g.189066423T>GCA430303277COL5A2c.1530A>C (p.Gly510=)
c.369A>C (p.Gly123=)
c.1392A>C (p.Gly464=)
2g.189066424C>ACA349851220COL5A2c.1529G>T (p.Gly510Val)
c.368G>T (p.Gly123Val)
c.1391G>T (p.Gly464Val)
2g.189066424C>GCA349851222COL5A2c.1529G>C (p.Gly510Ala)
c.368G>C (p.Gly123Ala)
c.1391G>C (p.Gly464Ala)
2g.189066424C>TCA349851224COL5A2c.1529G>A (p.Gly510Glu)
c.368G>A (p.Gly123Glu)
c.1391G>A (p.Gly464Glu)
 ClinVar
2g.189066425C>ACA349851226COL5A2c.1528G>T (p.Gly510Ter)
c.367G>T (p.Gly123Ter)
c.1390G>T (p.Gly464Ter)
2g.189066425C>GCA349851229COL5A2c.1528G>C (p.Gly510Arg)
c.367G>C (p.Gly123Arg)
c.1390G>C (p.Gly464Arg)
2g.189066425C>TCA349851230COL5A2c.1528G>A (p.Gly510Arg)
c.367G>A (p.Gly123Arg)
c.1390G>A (p.Gly464Arg)
2g.189066426T>ACA430303278COL5A2c.1527A>T (p.Pro509=)
c.366A>T (p.Pro122=)
c.1389A>T (p.Pro463=)
2g.189066426T>CCA430303279COL5A2c.1527A>G (p.Pro509=)
c.366A>G (p.Pro122=)
c.1389A>G (p.Pro463=)
 gnomAD v4
2g.189066426T>GCA2022678COL5A2c.1527A>C (p.Pro509=)
c.366A>C (p.Pro122=)
c.1389A>C (p.Pro463=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066426T=CA1315431872COL5A2c.1527A= (p.Pro509=)
c.366A= (p.Pro122=)
c.1389A= (p.Pro463=)
2g.189066427G>ACA349851239COL5A2c.1526C>T (p.Pro509Leu)
c.365C>T (p.Pro122Leu)
c.1388C>T (p.Pro463Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189066427G>CCA349851237COL5A2c.1526C>G (p.Pro509Arg)
c.365C>G (p.Pro122Arg)
c.1388C>G (p.Pro463Arg)
2g.189066427G=CA1315431873COL5A2c.1526C= (p.Pro509=)
c.365C= (p.Pro122=)
c.1388C= (p.Pro463=)
2g.189066427G>TCA349851235COL5A2c.1526C>A (p.Pro509Gln)
c.365C>A (p.Pro122Gln)
c.1388C>A (p.Pro463Gln)
2g.189066428G>ACA349851242COL5A2c.1525C>T (p.Pro509Ser)
c.364C>T (p.Pro122Ser)
c.1387C>T (p.Pro463Ser)
 gnomAD v4
2g.189066428G>CCA349851243COL5A2c.1525C>G (p.Pro509Ala)
c.364C>G (p.Pro122Ala)
c.1387C>G (p.Pro463Ala)
2g.189066428G>TCA349851245COL5A2c.1525C>A (p.Pro509Thr)
c.364C>A (p.Pro122Thr)
c.1387C>A (p.Pro463Thr)
2g.189066429G>ACA2022679COL5A2c.1524C>T (p.Asp508=)
c.363C>T (p.Asp121=)
c.1386C>T (p.Asp462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066429G>CCA349851248COL5A2c.1524C>G (p.Asp508Glu)
c.363C>G (p.Asp121Glu)
c.1386C>G (p.Asp462Glu)
2g.189066429G=CA1315431874COL5A2c.1524C= (p.Asp508=)
c.363C= (p.Asp121=)
c.1386C= (p.Asp462=)
2g.189066429G>TCA349851249COL5A2c.1524C>A (p.Asp508Glu)
c.363C>A (p.Asp121Glu)
c.1386C>A (p.Asp462Glu)
2g.189066430T>ACA349851252COL5A2c.1523A>T (p.Asp508Val)
c.362A>T (p.Asp121Val)
c.1385A>T (p.Asp462Val)
 dbSNP
2g.189066430T>CCA349851253COL5A2c.1523A>G (p.Asp508Gly)
c.362A>G (p.Asp121Gly)
c.1385A>G (p.Asp462Gly)
2g.189066430T>GCA349851255COL5A2c.1523A>C (p.Asp508Ala)
c.362A>C (p.Asp121Ala)
c.1385A>C (p.Asp462Ala)
2g.189066430T=CA1315431875COL5A2c.1523A= (p.Asp508=)
c.362A= (p.Asp121=)
c.1385A= (p.Asp462=)
2g.189066431C>ACA349851256COL5A2c.1522G>T (p.Asp508Tyr)
c.361G>T (p.Asp121Tyr)
c.1384G>T (p.Asp462Tyr)
2g.189066431C>GCA349851257COL5A2c.1522G>C (p.Asp508His)
c.361G>C (p.Asp121His)
c.1384G>C (p.Asp462His)
2g.189066431C>TCA349851258COL5A2c.1522G>A (p.Asp508Asn)
c.361G>A (p.Asp121Asn)
c.1384G>A (p.Asp462Asn)
2g.189066432A>CCA430303280COL5A2c.1521T>G (p.Gly507=)
c.360T>G (p.Gly120=)
c.1383T>G (p.Gly461=)
2g.189066432A>GCA430303281COL5A2c.1521T>C (p.Gly507=)
c.360T>C (p.Gly120=)
c.1383T>C (p.Gly461=)
2g.189066432A>TCA430303282COL5A2c.1521T>A (p.Gly507=)
c.360T>A (p.Gly120=)
c.1383T>A (p.Gly461=)
2g.189066433C>ACA349851265COL5A2c.1520G>T (p.Gly507Val)
c.359G>T (p.Gly120Val)
c.1382G>T (p.Gly461Val)
2g.189066433C>GCA349851262COL5A2c.1520G>C (p.Gly507Ala)
c.359G>C (p.Gly120Ala)
c.1382G>C (p.Gly461Ala)
2g.189066433C>TCA349851261COL5A2c.1520G>A (p.Gly507Asp)
c.359G>A (p.Gly120Asp)
c.1382G>A (p.Gly461Asp)
2g.189066434C>ACA349851267COL5A2c.1519G>T (p.Gly507Cys)
c.359-1G>T (n.359-1G>T)
c.1381G>T (p.Gly461Cys)
2g.189066434C>GCA349851269COL5A2c.1519G>C (p.Gly507Arg)
c.359-1G>C (n.359-1G>C)
c.1381G>C (p.Gly461Arg)
2g.189066434C>TCA349851271COL5A2c.1519G>A (p.Gly507Ser)
c.359-1G>A (n.359-1G>A)
c.1381G>A (p.Gly461Ser)
2g.189066435T>ACA349851274COL5A2c.1518A>T (p.Arg506Ser)
c.359-2A>T (n.359-2A>T)
c.1380A>T (p.Arg460Ser)
 ClinVar dbSNP
2g.189066435T>CCA349851276COL5A2c.1518A>G (p.Arg506=)
c.359-2A>G (n.359-2A>G)
c.1380A>G (p.Arg460=)
2g.189066435T>GCA349851277COL5A2c.1518A>C (p.Arg506Ser)
c.359-2A>C (n.359-2A>C)
c.1380A>C (p.Arg460Ser)
2g.189066435T=CA1315431876COL5A2c.1518A= (p.Arg506=)
c.359-2A= (n.359-2A=)
c.1380A= (p.Arg460=)
2g.189066436C>ACA349851279COL5A2c.1517G>T (p.Arg506Ile)
c.359-3G>T (n.359-3G>T)
c.1379G>T (p.Arg460Ile)
2g.189066436C>GCA349851283COL5A2c.1517G>C (p.Arg506Thr)
c.359-3G>C (n.359-3G>C)
c.1379G>C (p.Arg460Thr)
2g.189066436C>TCA349851286COL5A2c.1517G>A (p.Arg506Lys)
c.359-3G>A (n.359-3G>A)
c.1379G>A (p.Arg460Lys)
2g.189066437T>ACA349851288COL5A2c.1516A>T (p.Arg506Ter)
c.359-4A>T (n.359-4A>T)
c.1378A>T (p.Arg460Ter)
2g.189066437T>CCA349851289COL5A2c.1516A>G (p.Arg506Gly)
c.359-4A>G (n.359-4A>G)
c.1378A>G (p.Arg460Gly)
2g.189066437T>GCA430303284COL5A2c.1516A>C (p.Arg506=)
c.359-4A>C (n.359-4A>C)
c.1378A>C (p.Arg460=)
2g.189066438G>ACA2022680COL5A2c.1515C>T (p.Pro505=)
c.359-5C>T (n.359-5C>T)
c.1377C>T (p.Pro459=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066438G>CCA430303285COL5A2c.1515C>G (p.Pro505=)
c.359-5C>G (n.359-5C>G)
c.1377C>G (p.Pro459=)
2g.189066438G=CA1315431877COL5A2c.1515C= (p.Pro505=)
c.359-5C= (n.359-5C=)
c.1377C= (p.Pro459=)
2g.189066438G>TCA430303286COL5A2c.1515C>A (p.Pro505=)
c.359-5C>A (n.359-5C>A)
c.1377C>A (p.Pro459=)
 gnomAD v4
2g.189066439G>ACA349851295COL5A2c.1514C>T (p.Pro505Leu)
c.359-6C>T (n.359-6C>T)
c.1376C>T (p.Pro459Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189066439G>CCA349851294COL5A2c.1514C>G (p.Pro505Arg)
c.359-6C>G (n.359-6C>G)
c.1376C>G (p.Pro459Arg)
 dbSNP gnomAD v2
2g.189066439G=CA1315431878COL5A2c.1514C= (p.Pro505=)
c.359-6C= (n.359-6C=)
c.1376C= (p.Pro459=)
2g.189066439G>TCA349851292COL5A2c.1514C>A (p.Pro505His)
c.359-6C>A (n.359-6C>A)
c.1376C>A (p.Pro459His)
2g.189066440G>ACA349851296COL5A2c.1513C>T (p.Pro505Ser)
c.359-7C>T (n.359-7C>T)
c.1375C>T (p.Pro459Ser)
 COSMIC
2g.189066440G>CCA349851298COL5A2c.1513C>G (p.Pro505Ala)
c.359-7C>G (n.359-7C>G)
c.1375C>G (p.Pro459Ala)
2g.189066440G>TCA349851297COL5A2c.1513C>A (p.Pro505Thr)
c.359-7C>A (n.359-7C>A)
c.1375C>A (p.Pro459Thr)
2g.189066441A>CCA430303287COL5A2c.1512T>G (p.Gly504=)
c.359-8T>G (n.359-8T>G)
c.1374T>G (p.Gly458=)
2g.189066441A>GCA430303289COL5A2c.1512T>C (p.Gly504=)
c.359-8T>C (n.359-8T>C)
c.1374T>C (p.Gly458=)
2g.189066441A>TCA430303288COL5A2c.1512T>A (p.Gly504=)
c.359-8T>A (n.359-8T>A)
c.1374T>A (p.Gly458=)
2g.189066442C>ACA349851299COL5A2c.1511G>T (p.Gly504Val)
c.359-9G>T (n.359-9G>T)
c.1373G>T (p.Gly458Val)
2g.189066442C>GCA349851300COL5A2c.1511G>C (p.Gly504Ala)
c.359-9G>C (n.359-9G>C)
c.1373G>C (p.Gly458Ala)
2g.189066442C>TCA349851301COL5A2c.1511G>A (p.Gly504Asp)
c.359-9G>A (n.359-9G>A)
c.1373G>A (p.Gly458Asp)
 COSMIC
2g.189066443C>ACA349851302COL5A2c.1510G>T (p.Gly504Cys)
c.359-10G>T (n.359-10G>T)
c.1372G>T (p.Gly458Cys)
2g.189066443C>GCA349851303COL5A2c.1510G>C (p.Gly504Arg)
c.359-10G>C (n.359-10G>C)
c.1372G>C (p.Gly458Arg)
2g.189066443C>TCA349851304COL5A2c.1510G>A (p.Gly504Ser)
c.359-10G>A (n.359-10G>A)
c.1372G>A (p.Gly458Ser)
2g.189066444T>ACA349851305COL5A2c.1509A>T (p.Arg503Ser)
c.359-11A>T (n.359-11A>T)
c.1371A>T (p.Arg457Ser)
 gnomAD v4
2g.189066444T>CCA430303290COL5A2c.1509A>G (p.Arg503=)
c.359-11A>G (n.359-11A>G)
c.1371A>G (p.Arg457=)
2g.189066444T>GCA349851306COL5A2c.1509A>C (p.Arg503Ser)
c.359-11A>C (n.359-11A>C)
c.1371A>C (p.Arg457Ser)
2g.189066445C>ACA349851308COL5A2c.1508G>T (p.Arg503Ile)
c.359-12G>T (n.359-12G>T)
c.1370G>T (p.Arg457Ile)
2g.189066445C=CA1315431879COL5A2c.1508G= (p.Arg503=)
c.359-12G= (n.359-12G=)
c.1370G= (p.Arg457=)
2g.189066445C>GCA349851310COL5A2c.1508G>C (p.Arg503Thr)
c.359-12G>C (n.359-12G>C)
c.1370G>C (p.Arg457Thr)
2g.189066445C>TCA2022681COL5A2c.1508G>A (p.Arg503Lys)
c.359-12G>A (n.359-12G>A)
c.1370G>A (p.Arg457Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189066446T>ACA349851314COL5A2c.1507A>T (p.Arg503Ter)
c.359-13A>T (n.359-13A>T)
c.1369A>T (p.Arg457Ter)
2g.189066446T>CCA349851316COL5A2c.1507A>G (p.Arg503Gly)
c.359-13A>G (n.359-13A>G)
c.1369A>G (p.Arg457Gly)
2g.189066446T>GCA430303292COL5A2c.1507A>C (p.Arg503=)
c.359-13A>C (n.359-13A>C)
c.1369A>C (p.Arg457=)
2g.189066447T>ACA349851317COL5A2c.1506A>T (p.Lys502Asn)
c.359-14A>T (n.359-14A>T)
c.1368A>T (p.Lys456Asn)
2g.189066447T>CCA430303293COL5A2c.1506A>G (p.Lys502=)
c.359-14A>G (n.359-14A>G)
c.1368A>G (p.Lys456=)
2g.189066447T>GCA349851319COL5A2c.1506A>C (p.Lys502Asn)
c.359-14A>C (n.359-14A>C)
c.1368A>C (p.Lys456Asn)
2g.189066448T>ACA349851322COL5A2c.1505A>T (p.Lys502Ile)
c.359-15A>T (n.359-15A>T)
c.1367A>T (p.Lys456Ile)
2g.189066448T>CCA349851325COL5A2c.1505A>G (p.Lys502Arg)
c.359-15A>G (n.359-15A>G)
c.1367A>G (p.Lys456Arg)
 COSMIC
2g.189066448T>GCA349851327COL5A2c.1505A>C (p.Lys502Thr)
c.359-15A>C (n.359-15A>C)
c.1367A>C (p.Lys456Thr)
2g.189066449T>ACA349851330COL5A2c.1504A>T (p.Lys502Ter)
c.359-16A>T (n.359-16A>T)
c.1366A>T (p.Lys456Ter)
2g.189066449T>CCA349851332COL5A2c.1504A>G (p.Lys502Glu)
c.359-16A>G (n.359-16A>G)
c.1366A>G (p.Lys456Glu)
2g.189066449T>GCA349851334COL5A2c.1504A>C (p.Lys502Gln)
c.359-16A>C (n.359-16A>C)
c.1366A>C (p.Lys456Gln)
2g.189066450G>ACA430303294COL5A2c.1503C>T (p.Gly501=)
c.359-17C>T (n.359-17C>T)
c.1365C>T (p.Gly455=)
2g.189066450G>CCA430303295COL5A2c.1503C>G (p.Gly501=)
c.359-17C>G (n.359-17C>G)
c.1365C>G (p.Gly455=)
2g.189066450G>TCA430303296COL5A2c.1503C>A (p.Gly501=)
c.359-17C>A (n.359-17C>A)
c.1365C>A (p.Gly455=)
2g.189066451C>ACA349851338COL5A2c.1502G>T (p.Gly501Val)
c.359-18G>T (n.359-18G>T)
c.1364G>T (p.Gly455Val)
2g.189066451C>GCA349851336COL5A2c.1502G>C (p.Gly501Ala)
c.359-18G>C (n.359-18G>C)
c.1364G>C (p.Gly455Ala)
2g.189066451C>TCA349851337COL5A2c.1502G>A (p.Gly501Asp)
c.359-18G>A (n.359-18G>A)
c.1364G>A (p.Gly455Asp)
 ClinVar
2g.189066452C>ACA349851340COL5A2c.1501G>T (p.Gly501Cys)
c.359-19G>T (n.359-19G>T)
c.1363G>T (p.Gly455Cys)
2g.189066452C>GCA349851342COL5A2c.1501G>C (p.Gly501Arg)
c.359-19G>C (n.359-19G>C)
c.1363G>C (p.Gly455Arg)
2g.189066452C>TCA349851344COL5A2c.1501G>A (p.Gly501Ser)
c.359-19G>A (n.359-19G>A)
c.1363G>A (p.Gly455Ser)
2g.189066453T>ACA349851346COL5A2c.1500A>T (p.Glu500Asp)
c.359-20A>T (n.359-20A>T)
c.1362A>T (p.Glu454Asp)
2g.189066453T>CCA430303297COL5A2c.1500A>G (p.Glu500=)
c.359-20A>G (n.359-20A>G)
c.1362A>G (p.Glu454=)
2g.189066453T>GCA349851357COL5A2c.1500A>C (p.Glu500Asp)
c.359-20A>C (n.359-20A>C)
c.1362A>C (p.Glu454Asp)
2g.189066454T>ACA349851370COL5A2c.1499A>T (p.Glu500Val)
c.359-21A>T (n.359-21A>T)
c.1361A>T (p.Glu454Val)
2g.189066454T>CCA349851380COL5A2c.1499A>G (p.Glu500Gly)
c.359-21A>G (n.359-21A>G)
c.1361A>G (p.Glu454Gly)
2g.189066454T>GCA349851375COL5A2c.1499A>C (p.Glu500Ala)
c.359-21A>C (n.359-21A>C)
c.1361A>C (p.Glu454Ala)
2g.189066455C>ACA349851387COL5A2c.1498G>T (p.Glu500Ter)
c.359-22G>T (n.359-22G>T)
c.1360G>T (p.Glu454Ter)
2g.189066455C=CA1315431880COL5A2c.1498G= (p.Glu500=)
c.359-22G= (n.359-22G=)
c.1360G= (p.Glu454=)
2g.189066455C>GCA349851390COL5A2c.1498G>C (p.Glu500Gln)
c.359-22G>C (n.359-22G>C)
c.1360G>C (p.Glu454Gln)
2g.189066455C>TCA349851394COL5A2c.1498G>A (p.Glu500Lys)
c.359-22G>A (n.359-22G>A)
c.1360G>A (p.Glu454Lys)
 dbSNP gnomAD v4
2g.189066456T>ACA349851402COL5A2c.1497A>T (p.Glu499Asp)
c.359-23A>T (n.359-23A>T)
c.1359A>T (p.Glu453Asp)
2g.189066456T>CCA430303299COL5A2c.1497A>G (p.Glu499=)
c.359-23A>G (n.359-23A>G)
c.1359A>G (p.Glu453=)
2g.189066456T>GCA349851409COL5A2c.1497A>C (p.Glu499Asp)
c.359-23A>C (n.359-23A>C)
c.1359A>C (p.Glu453Asp)
2g.189066457T>ACA349851415COL5A2c.1496A>T (p.Glu499Val)
c.359-24A>T (n.359-24A>T)
c.1358A>T (p.Glu453Val)
2g.189066457T>CCA349851414COL5A2c.1496A>G (p.Glu499Gly)
c.359-24A>G (n.359-24A>G)
c.1358A>G (p.Glu453Gly)
2g.189066457T>GCA349851412COL5A2c.1496A>C (p.Glu499Ala)
c.359-24A>C (n.359-24A>C)
c.1358A>C (p.Glu453Ala)
2g.189066458C>ACA349851418COL5A2c.1495G>T (p.Glu499Ter)
c.359-25G>T (n.359-25G>T)
c.1357G>T (p.Glu453Ter)
2g.189066458C=CA1315431881COL5A2c.1495G= (p.Glu499=)
c.359-25G= (n.359-25G=)
c.1357G= (p.Glu453=)
2g.189066458C>GCA349851419COL5A2c.1495G>C (p.Glu499Gln)
c.359-25G>C (n.359-25G>C)
c.1357G>C (p.Glu453Gln)
2g.189066458C>TCA62555498COL5A2c.1495G>A (p.Glu499Lys)
c.359-25G>A (n.359-25G>A)
c.1357G>A (p.Glu453Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.189066459A>CCA430303300COL5A2c.1494T>G (p.Gly498=)
c.359-26T>G (n.359-26T>G)
c.1356T>G (p.Gly452=)
2g.189066459A>GCA430303301COL5A2c.1494T>C (p.Gly498=)
c.359-26T>C (n.359-26T>C)
c.1356T>C (p.Gly452=)
 ClinVar gnomAD v4
2g.189066459A>TCA430303302COL5A2c.1494T>A (p.Gly498=)
c.359-26T>A (n.359-26T>A)
c.1356T>A (p.Gly452=)
2g.189066460C>ACA349851422COL5A2c.1493G>T (p.Gly498Val)
c.359-27G>T (n.359-27G>T)
c.1355G>T (p.Gly452Val)
2g.189066460C>GCA349851423COL5A2c.1493G>C (p.Gly498Ala)
c.359-27G>C (n.359-27G>C)
c.1355G>C (p.Gly452Ala)
2g.189066460C>TCA349851425COL5A2c.1493G>A (p.Gly498Asp)
c.359-27G>A (n.359-27G>A)
c.1355G>A (p.Gly452Asp)
2g.189066461C>ACA349851427COL5A2c.1492G>T (p.Gly498Cys)
c.359-28G>T (n.359-28G>T)
c.1354G>T (p.Gly452Cys)
2g.189066461C=CA1315431882COL5A2c.1492G= (p.Gly498=)
c.359-28G= (n.359-28G=)
c.1354G= (p.Gly452=)
2g.189066461C>GCA349851429COL5A2c.1492G>C (p.Gly498Arg)
c.359-28G>C (n.359-28G>C)
c.1354G>C (p.Gly452Arg)
2g.189066461C>TCA322472COL5A2c.1492G>A (p.Gly498Ser)
c.359-28G>A (n.359-28G>A)
c.1354G>A (p.Gly452Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189066462G>ACA2022683COL5A2c.1491C>T (p.Pro497=)
c.359-29C>T (n.359-29C>T)
c.1353C>T (p.Pro451=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189066462G>CCA430303303COL5A2c.1491C>G (p.Pro497=)
c.359-29C>G (n.359-29C>G)
c.1353C>G (p.Pro451=)
2g.189066462G=CA1315431883COL5A2c.1491C= (p.Pro497=)
c.359-29C= (n.359-29C=)
c.1353C= (p.Pro451=)
2g.189066462G>TCA2022682COL5A2c.1491C>A (p.Pro497=)
c.359-29C>A (n.359-29C>A)
c.1353C>A (p.Pro451=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched