Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189052955C>ACA349871111COL5A2c.2617G>T (p.Gly873Cys)
c.1456G>T (p.Gly486Cys)
c.2479G>T (p.Gly827Cys)
2g.189052955C>GCA349871113COL5A2c.2617G>C (p.Gly873Arg)
c.1456G>C (p.Gly486Arg)
c.2479G>C (p.Gly827Arg)
2g.189052955C>TCA349871115COL5A2c.2617G>A (p.Gly873Ser)
c.1456G>A (p.Gly486Ser)
c.2479G>A (p.Gly827Ser)
2g.189052956A>CCA430323057COL5A2c.2616T>G (p.Ala872=)
c.1455T>G (p.Ala485=)
c.2478T>G (p.Ala826=)
2g.189052956A>GCA430323055COL5A2c.2616T>C (p.Ala872=)
c.1455T>C (p.Ala485=)
c.2478T>C (p.Ala826=)
 gnomAD v4
2g.189052956A>TCA430323056COL5A2c.2616T>A (p.Ala872=)
c.1455T>A (p.Ala485=)
c.2478T>A (p.Ala826=)
2g.189052957G>ACA349871118COL5A2c.2615C>T (p.Ala872Val)
c.1454C>T (p.Ala485Val)
c.2477C>T (p.Ala826Val)
 gnomAD v4
2g.189052957G>CCA349871120COL5A2c.2615C>G (p.Ala872Gly)
c.1454C>G (p.Ala485Gly)
c.2477C>G (p.Ala826Gly)
2g.189052957G>TCA349871122COL5A2c.2615C>A (p.Ala872Asp)
c.1454C>A (p.Ala485Asp)
c.2477C>A (p.Ala826Asp)
2g.189052958C>ACA2022258COL5A2c.2614G>T (p.Ala872Ser)
c.1453G>T (p.Ala485Ser)
c.2476G>T (p.Ala826Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052958C=CA1315426049COL5A2c.2614G= (p.Ala872=)
c.1453G= (p.Ala485=)
c.2476G= (p.Ala826=)
2g.189052958C>GCA349871129COL5A2c.2614G>C (p.Ala872Pro)
c.1453G>C (p.Ala485Pro)
c.2476G>C (p.Ala826Pro)
2g.189052958C>TCA349871130COL5A2c.2614G>A (p.Ala872Thr)
c.1453G>A (p.Ala485Thr)
c.2476G>A (p.Ala826Thr)
 ClinVar
2g.189052959A>CCA349871131COL5A2c.2613T>G (p.Asp871Glu)
c.1452T>G (p.Asp484Glu)
c.2475T>G (p.Asp825Glu)
2g.189052959A>GCA430323061COL5A2c.2613T>C (p.Asp871=)
c.1452T>C (p.Asp484=)
c.2475T>C (p.Asp825=)
2g.189052959A>TCA349871132COL5A2c.2613T>A (p.Asp871Glu)
c.1452T>A (p.Asp484Glu)
c.2475T>A (p.Asp825Glu)
2g.189052960T>ACA349871134COL5A2c.2612A>T (p.Asp871Val)
c.1451A>T (p.Asp484Val)
c.2474A>T (p.Asp825Val)
 dbSNP
2g.189052960T>CCA349871136COL5A2c.2612A>G (p.Asp871Gly)
c.1451A>G (p.Asp484Gly)
c.2474A>G (p.Asp825Gly)
2g.189052960T>GCA349871138COL5A2c.2612A>C (p.Asp871Ala)
c.1451A>C (p.Asp484Ala)
c.2474A>C (p.Asp825Ala)
2g.189052960T=CA1315426050COL5A2c.2612A= (p.Asp871=)
c.1451A= (p.Asp484=)
c.2474A= (p.Asp825=)
2g.189052961C>ACA349871140COL5A2c.2611G>T (p.Asp871Tyr)
c.1450G>T (p.Asp484Tyr)
c.2473G>T (p.Asp825Tyr)
2g.189052961C>GCA349871142COL5A2c.2611G>C (p.Asp871His)
c.1450G>C (p.Asp484His)
c.2473G>C (p.Asp825His)
2g.189052961C>TCA349871144COL5A2c.2611G>A (p.Asp871Asn)
c.1450G>A (p.Asp484Asn)
c.2473G>A (p.Asp825Asn)
2g.189052962T>ACA430323066COL5A2c.2610A>T (p.Gly870=)
c.1449A>T (p.Gly483=)
c.2472A>T (p.Gly824=)
2g.189052962T>CCA430323064COL5A2c.2610A>G (p.Gly870=)
c.1449A>G (p.Gly483=)
c.2472A>G (p.Gly824=)
2g.189052962T>GCA430323067COL5A2c.2610A>C (p.Gly870=)
c.1449A>C (p.Gly483=)
c.2472A>C (p.Gly824=)
2g.189052963C>ACA349871149COL5A2c.2609G>T (p.Gly870Val)
c.1448G>T (p.Gly483Val)
c.2471G>T (p.Gly824Val)
2g.189052963C>GCA349871146COL5A2c.2609G>C (p.Gly870Ala)
c.1448G>C (p.Gly483Ala)
c.2471G>C (p.Gly824Ala)
2g.189052963C>TCA349871148COL5A2c.2609G>A (p.Gly870Glu)
c.1448G>A (p.Gly483Glu)
c.2471G>A (p.Gly824Glu)
2g.189052964C>ACA349871150COL5A2c.2608G>T (p.Gly870Ter)
c.1447G>T (p.Gly483Ter)
c.2470G>T (p.Gly824Ter)
2g.189052964C>GCA349871151COL5A2c.2608G>C (p.Gly870Arg)
c.1447G>C (p.Gly483Arg)
c.2470G>C (p.Gly824Arg)
2g.189052964C>TCA349871153COL5A2c.2608G>A (p.Gly870Arg)
c.1447G>A (p.Gly483Arg)
c.2470G>A (p.Gly824Arg)
 COSMIC
2g.189052965C>ACA349871156COL5A2c.2607G>T (p.Lys869Asn)
c.1446G>T (p.Lys482Asn)
c.2469G>T (p.Lys823Asn)
2g.189052965C>GCA349871157COL5A2c.2607G>C (p.Lys869Asn)
c.1446G>C (p.Lys482Asn)
c.2469G>C (p.Lys823Asn)
2g.189052965C>TCA430323068COL5A2c.2607G>A (p.Lys869=)
c.1446G>A (p.Lys482=)
c.2469G>A (p.Lys823=)
2g.189052966T>ACA349871160COL5A2c.2606A>T (p.Lys869Met)
c.1445A>T (p.Lys482Met)
c.2468A>T (p.Lys823Met)
2g.189052966T>CCA349871164COL5A2c.2606A>G (p.Lys869Arg)
c.1445A>G (p.Lys482Arg)
c.2468A>G (p.Lys823Arg)
 dbSNP
2g.189052966T>GCA349871162COL5A2c.2606A>C (p.Lys869Thr)
c.1445A>C (p.Lys482Thr)
c.2468A>C (p.Lys823Thr)
2g.189052966T=CA1315426051COL5A2c.2606A= (p.Lys869=)
c.1445A= (p.Lys482=)
c.2468A= (p.Lys823=)
2g.189052967T>ACA349871165COL5A2c.2605A>T (p.Lys869Ter)
c.1444A>T (p.Lys482Ter)
c.2467A>T (p.Lys823Ter)
2g.189052967T>CCA349871168COL5A2c.2605A>G (p.Lys869Glu)
c.1444A>G (p.Lys482Glu)
c.2467A>G (p.Lys823Glu)
 gnomAD v4
2g.189052967T>GCA349871170COL5A2c.2605A>C (p.Lys869Gln)
c.1444A>C (p.Lys482Gln)
c.2467A>C (p.Lys823Gln)
2g.189052968C>ACA349871171COL5A2c.2604G>T (p.Gln868His)
c.1443G>T (p.Gln481His)
c.2466G>T (p.Gln822His)
2g.189052968C>GCA349871173COL5A2c.2604G>C (p.Gln868His)
c.1443G>C (p.Gln481His)
c.2466G>C (p.Gln822His)
2g.189052968C>TCA430323072COL5A2c.2604G>A (p.Gln868=)
c.1443G>A (p.Gln481=)
c.2466G>A (p.Gln822=)
2g.189052969T>ACA349871175COL5A2c.2603A>T (p.Gln868Leu)
c.1442A>T (p.Gln481Leu)
c.2465A>T (p.Gln822Leu)
 gnomAD v4
2g.189052969T>CCA349871177COL5A2c.2603A>G (p.Gln868Arg)
c.1442A>G (p.Gln481Arg)
c.2465A>G (p.Gln822Arg)
2g.189052969T>GCA349871179COL5A2c.2603A>C (p.Gln868Pro)
c.1442A>C (p.Gln481Pro)
c.2465A>C (p.Gln822Pro)
2g.189052970G>ACA349871182COL5A2c.2602C>T (p.Gln868Ter)
c.1441C>T (p.Gln481Ter)
c.2464C>T (p.Gln822Ter)
2g.189052970G>CCA349871184COL5A2c.2602C>G (p.Gln868Glu)
c.1441C>G (p.Gln481Glu)
c.2464C>G (p.Gln822Glu)
2g.189052970G=CA1315426052COL5A2c.2602C= (p.Gln868=)
c.1441C= (p.Gln481=)
c.2464C= (p.Gln822=)
2g.189052970G>TCA349871186COL5A2c.2602C>A (p.Gln868Lys)
c.1441C>A (p.Gln481Lys)
c.2464C>A (p.Gln822Lys)
 ClinVar dbSNP
2g.189052971T>ACA430323073COL5A2c.2601A>T (p.Gly867=)
c.1440A>T (p.Gly480=)
c.2463A>T (p.Gly821=)
 COSMIC
2g.189052971T>CCA430323075COL5A2c.2601A>G (p.Gly867=)
c.1440A>G (p.Gly480=)
c.2463A>G (p.Gly821=)
2g.189052971T>GCA430323076COL5A2c.2601A>C (p.Gly867=)
c.1440A>C (p.Gly480=)
c.2463A>C (p.Gly821=)
2g.189052972C>ACA349871188COL5A2c.2600G>T (p.Gly867Val)
c.1439G>T (p.Gly480Val)
c.2462G>T (p.Gly821Val)
2g.189052972C=CA1315426053COL5A2c.2600G= (p.Gly867=)
c.1439G= (p.Gly480=)
c.2462G= (p.Gly821=)
2g.189052972C>GCA2022259COL5A2c.2600G>C (p.Gly867Ala)
c.1439G>C (p.Gly480Ala)
c.2462G>C (p.Gly821Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052972C>TCA349871190COL5A2c.2600G>A (p.Gly867Glu)
c.1439G>A (p.Gly480Glu)
c.2462G>A (p.Gly821Glu)
2g.189052973C>ACA349871194COL5A2c.2599G>T (p.Gly867Ter)
c.1438G>T (p.Gly480Ter)
c.2461G>T (p.Gly821Ter)
 COSMIC
2g.189052973C>GCA349871197COL5A2c.2599G>C (p.Gly867Arg)
c.1438G>C (p.Gly480Arg)
c.2461G>C (p.Gly821Arg)
2g.189052973C>TCA349871195COL5A2c.2599G>A (p.Gly867Arg)
c.1438G>A (p.Gly480Arg)
c.2461G>A (p.Gly821Arg)
2g.189052974T>ACA430323079COL5A2c.2598A>T (p.Pro866=)
c.1437A>T (p.Pro479=)
c.2460A>T (p.Pro820=)
2g.189052974T>CCA2022260COL5A2c.2598A>G (p.Pro866=)
c.1437A>G (p.Pro479=)
c.2460A>G (p.Pro820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052974T>GCA430323080COL5A2c.2598A>C (p.Pro866=)
c.1437A>C (p.Pro479=)
c.2460A>C (p.Pro820=)
2g.189052974T=CA1315426054COL5A2c.2598A= (p.Pro866=)
c.1437A= (p.Pro479=)
c.2460A= (p.Pro820=)
2g.189052975G>ACA2022261COL5A2c.2597C>T (p.Pro866Leu)
c.1436C>T (p.Pro479Leu)
c.2459C>T (p.Pro820Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052975G>CCA349871200COL5A2c.2597C>G (p.Pro866Arg)
c.1436C>G (p.Pro479Arg)
c.2459C>G (p.Pro820Arg)
2g.189052975G=CA1315426055COL5A2c.2597C= (p.Pro866=)
c.1436C= (p.Pro479=)
c.2459C= (p.Pro820=)
2g.189052975G>TCA349871203COL5A2c.2597C>A (p.Pro866Gln)
c.1436C>A (p.Pro479Gln)
c.2459C>A (p.Pro820Gln)
2g.189052976G>ACA349871204COL5A2c.2596C>T (p.Pro866Ser)
c.1435C>T (p.Pro479Ser)
c.2458C>T (p.Pro820Ser)
2g.189052976G>CCA349871206COL5A2c.2596C>G (p.Pro866Ala)
c.1435C>G (p.Pro479Ala)
c.2458C>G (p.Pro820Ala)
 dbSNP
2g.189052976G=CA1315426056COL5A2c.2596C= (p.Pro866=)
c.1435C= (p.Pro479=)
c.2458C= (p.Pro820=)
2g.189052976G>TCA349871208COL5A2c.2596C>A (p.Pro866Thr)
c.1435C>A (p.Pro479Thr)
c.2458C>A (p.Pro820Thr)
2g.189052977C>ACA349871211COL5A2c.2595G>T (p.Glu865Asp)
c.1434G>T (p.Glu478Asp)
c.2457G>T (p.Glu819Asp)
2g.189052977C=CA1315426057COL5A2c.2595G= (p.Glu865=)
c.1434G= (p.Glu478=)
c.2457G= (p.Glu819=)
2g.189052977C>GCA2022262COL5A2c.2595G>C (p.Glu865Asp)
c.1434G>C (p.Glu478Asp)
c.2457G>C (p.Glu819Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052977C>TCA430323082COL5A2c.2595G>A (p.Glu865=)
c.1434G>A (p.Glu478=)
c.2457G>A (p.Glu819=)
 dbSNP gnomAD v2 gnomAD v4
2g.189052978T>ACA349871215COL5A2c.2594A>T (p.Glu865Val)
c.1433A>T (p.Glu478Val)
c.2456A>T (p.Glu819Val)
2g.189052978T>CCA349871216COL5A2c.2594A>G (p.Glu865Gly)
c.1433A>G (p.Glu478Gly)
c.2456A>G (p.Glu819Gly)
2g.189052978T>GCA349871218COL5A2c.2594A>C (p.Glu865Ala)
c.1433A>C (p.Glu478Ala)
c.2456A>C (p.Glu819Ala)
2g.189052979C>ACA349871221COL5A2c.2593G>T (p.Glu865Ter)
c.1432G>T (p.Glu478Ter)
c.2455G>T (p.Glu819Ter)
2g.189052979C>GCA349871230COL5A2c.2593G>C (p.Glu865Gln)
c.1432G>C (p.Glu478Gln)
c.2455G>C (p.Glu819Gln)
2g.189052979C>TCA349871223COL5A2c.2593G>A (p.Glu865Lys)
c.1432G>A (p.Glu478Lys)
c.2455G>A (p.Glu819Lys)
2g.189052980T>ACA430323083COL5A2c.2592A>T (p.Gly864=)
c.1431A>T (p.Gly477=)
c.2454A>T (p.Gly818=)
2g.189052980T>CCA430323084COL5A2c.2592A>G (p.Gly864=)
c.1431A>G (p.Gly477=)
c.2454A>G (p.Gly818=)
2g.189052980T>GCA430323085COL5A2c.2592A>C (p.Gly864=)
c.1431A>C (p.Gly477=)
c.2454A>C (p.Gly818=)
2g.189052981C>ACA349871233COL5A2c.2591G>T (p.Gly864Val)
c.1430G>T (p.Gly477Val)
c.2453G>T (p.Gly818Val)
2g.189052981C>GCA349871234COL5A2c.2591G>C (p.Gly864Ala)
c.1430G>C (p.Gly477Ala)
c.2453G>C (p.Gly818Ala)
2g.189052981C>TCA349871235COL5A2c.2591G>A (p.Gly864Glu)
c.1430G>A (p.Gly477Glu)
c.2453G>A (p.Gly818Glu)
2g.189052982C>ACA349871236COL5A2c.2590G>T (p.Gly864Ter)
c.1429G>T (p.Gly477Ter)
c.2452G>T (p.Gly818Ter)
2g.189052982C>GCA349871237COL5A2c.2590G>C (p.Gly864Arg)
c.1429G>C (p.Gly477Arg)
c.2452G>C (p.Gly818Arg)
2g.189052982C>TCA349871239COL5A2c.2590G>A (p.Gly864Arg)
c.1429G>A (p.Gly477Arg)
c.2452G>A (p.Gly818Arg)
2g.189052983A=CA1315426058COL5A2c.2589T= (p.Pro863=)
c.1428T= (p.Pro476=)
c.2451T= (p.Pro817=)
2g.189052983A>CCA430323087COL5A2c.2589T>G (p.Pro863=)
c.1428T>G (p.Pro476=)
c.2451T>G (p.Pro817=)
 dbSNP
2g.189052983A>GCA430323088COL5A2c.2589T>C (p.Pro863=)
c.1428T>C (p.Pro476=)
c.2451T>C (p.Pro817=)
2g.189052983A>TCA430323089COL5A2c.2589T>A (p.Pro863=)
c.1428T>A (p.Pro476=)
c.2451T>A (p.Pro817=)
2g.189052984G>ACA349871242COL5A2c.2588C>T (p.Pro863Leu)
c.1427C>T (p.Pro476Leu)
c.2450C>T (p.Pro817Leu)
2g.189052984G>CCA349871244COL5A2c.2588C>G (p.Pro863Arg)
c.1427C>G (p.Pro476Arg)
c.2450C>G (p.Pro817Arg)
2g.189052984G>TCA349871246COL5A2c.2588C>A (p.Pro863His)
c.1427C>A (p.Pro476His)
c.2450C>A (p.Pro817His)
 gnomAD v4
2g.189052985G>ACA349871254COL5A2c.2587C>T (p.Pro863Ser)
c.1426C>T (p.Pro476Ser)
c.2449C>T (p.Pro817Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189052985G>CCA349871261COL5A2c.2587C>G (p.Pro863Ala)
c.1426C>G (p.Pro476Ala)
c.2449C>G (p.Pro817Ala)
2g.189052985G=CA1315426059COL5A2c.2587C= (p.Pro863=)
c.1426C= (p.Pro476=)
c.2449C= (p.Pro817=)
2g.189052985G>TCA349871249COL5A2c.2587C>A (p.Pro863Thr)
c.1426C>A (p.Pro476Thr)
c.2449C>A (p.Pro817Thr)
 ClinVar
2g.189052986T>ACA349871265COL5A2c.2586A>T (p.Glu862Asp)
c.1425A>T (p.Glu475Asp)
c.2448A>T (p.Glu816Asp)
2g.189052986T>CCA430323090COL5A2c.2586A>G (p.Glu862=)
c.1425A>G (p.Glu475=)
c.2448A>G (p.Glu816=)
2g.189052986T>GCA349871268COL5A2c.2586A>C (p.Glu862Asp)
c.1425A>C (p.Glu475Asp)
c.2448A>C (p.Glu816Asp)
2g.189052987T>ACA62597027COL5A2c.2585A>T (p.Glu862Val)
c.1424A>T (p.Glu475Val)
c.2447A>T (p.Glu816Val)
 dbSNP gnomAD v4
2g.189052987T>CCA349871271COL5A2c.2585A>G (p.Glu862Gly)
c.1424A>G (p.Glu475Gly)
c.2447A>G (p.Glu816Gly)
2g.189052987T>GCA349871273COL5A2c.2585A>C (p.Glu862Ala)
c.1424A>C (p.Glu475Ala)
c.2447A>C (p.Glu816Ala)
2g.189052987T=CA1315426060COL5A2c.2585A= (p.Glu862=)
c.1424A= (p.Glu475=)
c.2447A= (p.Glu816=)
2g.189052988C>ACA349871275COL5A2c.2584G>T (p.Glu862Ter)
c.1423G>T (p.Glu475Ter)
c.2446G>T (p.Glu816Ter)
2g.189052988C=CA1315426061COL5A2c.2584G= (p.Glu862=)
c.1423G= (p.Glu475=)
c.2446G= (p.Glu816=)
2g.189052988C>GCA349871276COL5A2c.2584G>C (p.Glu862Gln)
c.1423G>C (p.Glu475Gln)
c.2446G>C (p.Glu816Gln)
2g.189052988C>TCA349871277COL5A2c.2584G>A (p.Glu862Lys)
c.1423G>A (p.Glu475Lys)
c.2446G>A (p.Glu816Lys)
 ClinVar dbSNP gnomAD v4
2g.189052989A>CCA430323094COL5A2c.2583T>G (p.Gly861=)
c.1422T>G (p.Gly474=)
c.2445T>G (p.Gly815=)
2g.189052989A>GCA430323095COL5A2c.2583T>C (p.Gly861=)
c.1422T>C (p.Gly474=)
c.2445T>C (p.Gly815=)
2g.189052989A>TCA430323096COL5A2c.2583T>A (p.Gly861=)
c.1422T>A (p.Gly474=)
c.2445T>A (p.Gly815=)
2g.189052990C>ACA349871278COL5A2c.2582G>T (p.Gly861Val)
c.1421G>T (p.Gly474Val)
c.2444G>T (p.Gly815Val)
2g.189052990C>GCA349871279COL5A2c.2582G>C (p.Gly861Ala)
c.1421G>C (p.Gly474Ala)
c.2444G>C (p.Gly815Ala)
2g.189052990C>TCA349871280COL5A2c.2582G>A (p.Gly861Asp)
c.1421G>A (p.Gly474Asp)
c.2444G>A (p.Gly815Asp)
2g.189052991C>ACA349871283COL5A2c.2581G>T (p.Gly861Cys)
c.1420G>T (p.Gly474Cys)
c.2443G>T (p.Gly815Cys)
2g.189052991C>GCA349871286COL5A2c.2581G>C (p.Gly861Arg)
c.1420G>C (p.Gly474Arg)
c.2443G>C (p.Gly815Arg)
2g.189052991C>TCA349871282COL5A2c.2581G>A (p.Gly861Ser)
c.1420G>A (p.Gly474Ser)
c.2443G>A (p.Gly815Ser)
2g.189052992T>ACA349871288COL5A2c.2580A>T (p.Lys860Asn)
c.1419A>T (p.Lys473Asn)
c.2442A>T (p.Lys814Asn)
2g.189052992T>CCA430323097COL5A2c.2580A>G (p.Lys860=)
c.1419A>G (p.Lys473=)
c.2442A>G (p.Lys814=)
2g.189052992T>GCA349871290COL5A2c.2580A>C (p.Lys860Asn)
c.1419A>C (p.Lys473Asn)
c.2442A>C (p.Lys814Asn)
 gnomAD v4
2g.189052993T>ACA349871292COL5A2c.2579A>T (p.Lys860Ile)
c.1418A>T (p.Lys473Ile)
c.2441A>T (p.Lys814Ile)
2g.189052993T>CCA349871293COL5A2c.2579A>G (p.Lys860Arg)
c.1418A>G (p.Lys473Arg)
c.2441A>G (p.Lys814Arg)
2g.189052993T>GCA349871294COL5A2c.2579A>C (p.Lys860Thr)
c.1418A>C (p.Lys473Thr)
c.2441A>C (p.Lys814Thr)
2g.189052994T>ACA349871302COL5A2c.2578A>T (p.Lys860Ter)
c.1417A>T (p.Lys473Ter)
c.2440A>T (p.Lys814Ter)
2g.189052994T>CCA349871295COL5A2c.2578A>G (p.Lys860Glu)
c.1417A>G (p.Lys473Glu)
c.2440A>G (p.Lys814Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.189052994T>GCA349871296COL5A2c.2578A>C (p.Lys860Gln)
c.1417A>C (p.Lys473Gln)
c.2440A>C (p.Lys814Gln)
2g.189052994T=CA1315426062COL5A2c.2578A= (p.Lys860=)
c.1417A= (p.Lys473=)
c.2440A= (p.Lys814=)
2g.189052995T>ACA430323101COL5A2c.2577A>T (p.Val859=)
c.1416A>T (p.Val472=)
c.2439A>T (p.Val813=)
2g.189052995T>CCA430323102COL5A2c.2577A>G (p.Val859=)
c.1416A>G (p.Val472=)
c.2439A>G (p.Val813=)
 dbSNP
2g.189052995T>GCA430323103COL5A2c.2577A>C (p.Val859=)
c.1416A>C (p.Val472=)
c.2439A>C (p.Val813=)
2g.189052996A=CA1315426063COL5A2c.2576T= (p.Val859=)
c.1415T= (p.Val472=)
c.2438T= (p.Val813=)
2g.189052996A>CCA349871305COL5A2c.2576T>G (p.Val859Gly)
c.1415T>G (p.Val472Gly)
c.2438T>G (p.Val813Gly)
2g.189052996A>GCA349871307COL5A2c.2576T>C (p.Val859Ala)
c.1415T>C (p.Val472Ala)
c.2438T>C (p.Val813Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189052996A>TCA349871309COL5A2c.2576T>A (p.Val859Glu)
c.1415T>A (p.Val472Glu)
c.2438T>A (p.Val813Glu)
2g.189052997C>ACA349871312COL5A2c.2575G>T (p.Val859Leu)
c.1414G>T (p.Val472Leu)
c.2437G>T (p.Val813Leu)
2g.189052997C=CA1315426064COL5A2c.2575G= (p.Val859=)
c.1414G= (p.Val472=)
c.2437G= (p.Val813=)
2g.189052997C>GCA349871314COL5A2c.2575G>C (p.Val859Leu)
c.1414G>C (p.Val472Leu)
c.2437G>C (p.Val813Leu)
2g.189052997C>TCA2022263COL5A2c.2575G>A (p.Val859Ile)
c.1414G>A (p.Val472Ile)
c.2437G>A (p.Val813Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052998T>ACA430323109COL5A2c.2574A>T (p.Gly858=)
c.1413A>T (p.Gly471=)
c.2436A>T (p.Gly812=)
2g.189052998T>CCA430323108COL5A2c.2574A>G (p.Gly858=)
c.1413A>G (p.Gly471=)
c.2436A>G (p.Gly812=)
2g.189052998T>GCA430323106COL5A2c.2574A>C (p.Gly858=)
c.1413A>C (p.Gly471=)
c.2436A>C (p.Gly812=)
2g.189052999C>ACA349871323COL5A2c.2573G>T (p.Gly858Val)
c.1412G>T (p.Gly471Val)
c.2435G>T (p.Gly812Val)
2g.189052999C>GCA349871329COL5A2c.2573G>C (p.Gly858Ala)
c.1412G>C (p.Gly471Ala)
c.2435G>C (p.Gly812Ala)
2g.189052999C>TCA349871320COL5A2c.2573G>A (p.Gly858Glu)
c.1412G>A (p.Gly471Glu)
c.2435G>A (p.Gly812Glu)
2g.189053000C>ACA349871331COL5A2c.2572G>T (p.Gly858Ter)
c.1411G>T (p.Gly471Ter)
c.2434G>T (p.Gly812Ter)
2g.189053000C>GCA349871330COL5A2c.2572G>C (p.Gly858Arg)
c.1411G>C (p.Gly471Arg)
c.2434G>C (p.Gly812Arg)
2g.189053000C>TCA349871332COL5A2c.2572G>A (p.Gly858Arg)
c.1411G>A (p.Gly471Arg)
c.2434G>A (p.Gly812Arg)
2g.189053001A=CA1315426065COL5A2c.2571T= (p.Pro857=)
c.1410T= (p.Pro470=)
c.2433T= (p.Pro811=)
2g.189053001A>CCA430323110COL5A2c.2571T>G (p.Pro857=)
c.1410T>G (p.Pro470=)
c.2433T>G (p.Pro811=)
2g.189053001A>GCA430323111COL5A2c.2571T>C (p.Pro857=)
c.1410T>C (p.Pro470=)
c.2433T>C (p.Pro811=)
 ClinVar dbSNP gnomAD v4
2g.189053001A>TCA430323112COL5A2c.2571T>A (p.Pro857=)
c.1410T>A (p.Pro470=)
c.2433T>A (p.Pro811=)
2g.189053002G>ACA62597041COL5A2c.2570C>T (p.Pro857Leu)
c.1409C>T (p.Pro470Leu)
c.2432C>T (p.Pro811Leu)
 ClinVar dbSNP gnomAD v4
2g.189053002G>CCA349871340COL5A2c.2570C>G (p.Pro857Arg)
c.1409C>G (p.Pro470Arg)
c.2432C>G (p.Pro811Arg)
2g.189053002G=CA1315426066COL5A2c.2570C= (p.Pro857=)
c.1409C= (p.Pro470=)
c.2432C= (p.Pro811=)
2g.189053002G>TCA349871336COL5A2c.2570C>A (p.Pro857His)
c.1409C>A (p.Pro470His)
c.2432C>A (p.Pro811His)
2g.189053003G>ACA349871342COL5A2c.2569C>T (p.Pro857Ser)
c.1408C>T (p.Pro470Ser)
c.2431C>T (p.Pro811Ser)
 gnomAD v4
2g.189053003G>CCA2022264COL5A2c.2569C>G (p.Pro857Ala)
c.1408C>G (p.Pro470Ala)
c.2431C>G (p.Pro811Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189053003G=CA1315426067COL5A2c.2569C= (p.Pro857=)
c.1408C= (p.Pro470=)
c.2431C= (p.Pro811=)
2g.189053003G>TCA349871345COL5A2c.2569C>A (p.Pro857Thr)
c.1408C>A (p.Pro470Thr)
c.2431C>A (p.Pro811Thr)
2g.189053004C>ACA349871347COL5A2c.2568G>T (p.Gln856His)
c.1407G>T (p.Gln469His)
c.2430G>T (p.Gln810His)
 gnomAD v4
2g.189053004C>GCA349871349COL5A2c.2568G>C (p.Gln856His)
c.1407G>C (p.Gln469His)
c.2430G>C (p.Gln810His)
2g.189053004C>TCA430323113COL5A2c.2568G>A (p.Gln856=)
c.1407G>A (p.Gln469=)
c.2430G>A (p.Gln810=)
2g.189053005T>ACA349871351COL5A2c.2567A>T (p.Gln856Leu)
c.1406A>T (p.Gln469Leu)
c.2429A>T (p.Gln810Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.189053005T>CCA349871353COL5A2c.2567A>G (p.Gln856Arg)
c.1406A>G (p.Gln469Arg)
c.2429A>G (p.Gln810Arg)
2g.189053005T>GCA349871354COL5A2c.2567A>C (p.Gln856Pro)
c.1406A>C (p.Gln469Pro)
c.2429A>C (p.Gln810Pro)
 gnomAD v4
2g.189053005T=CA1315426068COL5A2c.2567A= (p.Gln856=)
c.1406A= (p.Gln469=)
c.2429A= (p.Gln810=)
2g.189053006G>ACA349871357COL5A2c.2566C>T (p.Gln856Ter)
c.1405C>T (p.Gln469Ter)
c.2428C>T (p.Gln810Ter)
2g.189053006G>CCA349871358COL5A2c.2566C>G (p.Gln856Glu)
c.1405C>G (p.Gln469Glu)
c.2428C>G (p.Gln810Glu)
 gnomAD v4
2g.189053006G>TCA349871365COL5A2c.2566C>A (p.Gln856Lys)
c.1405C>A (p.Gln469Lys)
c.2428C>A (p.Gln810Lys)
2g.189053007T>ACA430323116COL5A2c.2565A>T (p.Gly855=)
c.1404A>T (p.Gly468=)
c.2427A>T (p.Gly809=)
2g.189053007T>CCA430323115COL5A2c.2565A>G (p.Gly855=)
c.1404A>G (p.Gly468=)
c.2427A>G (p.Gly809=)
2g.189053007T>GCA430323114COL5A2c.2565A>C (p.Gly855=)
c.1404A>C (p.Gly468=)
c.2427A>C (p.Gly809=)
2g.189053008C>ACA349871372COL5A2c.2564G>T (p.Gly855Val)
c.1403G>T (p.Gly468Val)
c.2426G>T (p.Gly809Val)
2g.189053008C=CA1315426069COL5A2c.2564G= (p.Gly855=)
c.1403G= (p.Gly468=)
c.2426G= (p.Gly809=)
2g.189053008C>GCA349871369COL5A2c.2564G>C (p.Gly855Ala)
c.1403G>C (p.Gly468Ala)
c.2426G>C (p.Gly809Ala)
2g.189053008C>TCA62597048COL5A2c.2564G>A (p.Gly855Glu)
c.1403G>A (p.Gly468Glu)
c.2426G>A (p.Gly809Glu)
 dbSNP
2g.189053009C>ACA349871374COL5A2c.2563G>T (p.Gly855Ter)
c.1402G>T (p.Gly468Ter)
c.2425G>T (p.Gly809Ter)
2g.189053009C=CA1315426070COL5A2c.2563G= (p.Gly855=)
c.1402G= (p.Gly468=)
c.2425G= (p.Gly809=)
2g.189053009C>GCA349871377COL5A2c.2563G>C (p.Gly855Arg)
c.1402G>C (p.Gly468Arg)
c.2425G>C (p.Gly809Arg)
 gnomAD v4
2g.189053009C>TCA16617398COL5A2c.2563G>A (p.Gly855Arg)
c.1402G>A (p.Gly468Arg)
c.2425G>A (p.Gly809Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189053010G>ACA302966COL5A2c.2562C>T (p.Asp854=)
c.1401C>T (p.Asp467=)
c.2424C>T (p.Asp808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189053010G>CCA349871387COL5A2c.2562C>G (p.Asp854Glu)
c.1401C>G (p.Asp467Glu)
c.2424C>G (p.Asp808Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189053010G=CA1315426071COL5A2c.2562C= (p.Asp854=)
c.1401C= (p.Asp467=)
c.2424C= (p.Asp808=)
2g.189053010G>TCA349871396COL5A2c.2562C>A (p.Asp854Glu)
c.1401C>A (p.Asp467Glu)
c.2424C>A (p.Asp808Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189053011T>ACA349871399COL5A2c.2561A>T (p.Asp854Val)
c.1400A>T (p.Asp467Val)
c.2423A>T (p.Asp808Val)
2g.189053011T>CCA349871402COL5A2c.2561A>G (p.Asp854Gly)
c.1400A>G (p.Asp467Gly)
c.2423A>G (p.Asp808Gly)
2g.189053011T>GCA349871403COL5A2c.2561A>C (p.Asp854Ala)
c.1400A>C (p.Asp467Ala)
c.2423A>C (p.Asp808Ala)
2g.189053012C>ACA349871408COL5A2c.2560G>T (p.Asp854Tyr)
c.1399G>T (p.Asp467Tyr)
c.2422G>T (p.Asp808Tyr)
2g.189053012C=CA1315426072COL5A2c.2560G= (p.Asp854=)
c.1399G= (p.Asp467=)
c.2422G= (p.Asp808=)
2g.189053012C>GCA349871409COL5A2c.2560G>C (p.Asp854His)
c.1399G>C (p.Asp467His)
c.2422G>C (p.Asp808His)
2g.189053012C>TCA349871410COL5A2c.2560G>A (p.Asp854Asn)
c.1399G>A (p.Asp467Asn)
c.2422G>A (p.Asp808Asn)
 dbSNP
2g.189053013A>CCA430323121COL5A2c.2559T>G (p.Pro853=)
c.1398T>G (p.Pro466=)
c.2421T>G (p.Pro807=)
2g.189053013A>GCA430323122COL5A2c.2559T>C (p.Pro853=)
c.1398T>C (p.Pro466=)
c.2421T>C (p.Pro807=)
2g.189053013A>TCA430323123COL5A2c.2559T>A (p.Pro853=)
c.1398T>A (p.Pro466=)
c.2421T>A (p.Pro807=)
2g.189053014G>ACA349871415COL5A2c.2558C>T (p.Pro853Leu)
c.1397C>T (p.Pro466Leu)
c.2420C>T (p.Pro807Leu)
2g.189053014G>CCA349871413COL5A2c.2558C>G (p.Pro853Arg)
c.1397C>G (p.Pro466Arg)
c.2420C>G (p.Pro807Arg)
 dbSNP
2g.189053014G=CA1315426073COL5A2c.2558C= (p.Pro853=)
c.1397C= (p.Pro466=)
c.2420C= (p.Pro807=)
2g.189053014G>TCA349871411COL5A2c.2558C>A (p.Pro853His)
c.1397C>A (p.Pro466His)
c.2420C>A (p.Pro807His)
2g.189053015G>ACA349871419COL5A2c.2557C>T (p.Pro853Ser)
c.1396C>T (p.Pro466Ser)
c.2419C>T (p.Pro807Ser)
2g.189053015G>CCA349871420COL5A2c.2557C>G (p.Pro853Ala)
c.1396C>G (p.Pro466Ala)
c.2419C>G (p.Pro807Ala)
2g.189053015G=CA1315426074COL5A2c.2557C= (p.Pro853=)
c.1396C= (p.Pro466=)
c.2419C= (p.Pro807=)
2g.189053015G>TCA322008COL5A2c.2557C>A (p.Pro853Thr)
c.1396C>A (p.Pro466Thr)
c.2419C>A (p.Pro807Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189053016A>CCA430323125COL5A2c.2556T>G (p.Gly852=)
c.1395T>G (p.Gly465=)
c.2418T>G (p.Gly806=)
2g.189053016A>GCA430323126COL5A2c.2556T>C (p.Gly852=)
c.1395T>C (p.Gly465=)
c.2418T>C (p.Gly806=)
2g.189053016A>TCA430323127COL5A2c.2556T>A (p.Gly852=)
c.1395T>A (p.Gly465=)
c.2418T>A (p.Gly806=)
2g.189053017C>ACA349871425COL5A2c.2555G>T (p.Gly852Val)
c.1394G>T (p.Gly465Val)
c.2417G>T (p.Gly806Val)
 gnomAD v4
2g.189053017C>GCA349871427COL5A2c.2555G>C (p.Gly852Ala)
c.1394G>C (p.Gly465Ala)
c.2417G>C (p.Gly806Ala)
2g.189053017C>TCA349871435COL5A2c.2555G>A (p.Gly852Asp)
c.1394G>A (p.Gly465Asp)
c.2417G>A (p.Gly806Asp)
2g.189053018C>ACA349871440COL5A2c.2554G>T (p.Gly852Cys)
c.1393G>T (p.Gly465Cys)
c.2416G>T (p.Gly806Cys)
 gnomAD v4
2g.189053018C=CA1315426075COL5A2c.2554G= (p.Gly852=)
c.1393G= (p.Gly465=)
c.2416G= (p.Gly806=)
2g.189053018C>GCA349871441COL5A2c.2554G>C (p.Gly852Arg)
c.1393G>C (p.Gly465Arg)
c.2416G>C (p.Gly806Arg)
 dbSNP
2g.189053018C>TCA349871442COL5A2c.2554G>A (p.Gly852Ser)
c.1393G>A (p.Gly465Ser)
c.2416G>A (p.Gly806Ser)
2g.189053019C>ACA349871443COL5A2c.2554-1G>T (n.2554-1G>T)
c.1393-1G>T (n.1393-1G>T)
c.2416-1G>T (n.2416-1G>T)
2g.189053019C>GCA349871444COL5A2c.2554-1G>C (n.2554-1G>C)
c.1393-1G>C (n.1393-1G>C)
c.2416-1G>C (n.2416-1G>C)
2g.189053019C>TCA349871445COL5A2c.2554-1G>A (n.2554-1G>A)
c.1393-1G>A (n.1393-1G>A)
c.2416-1G>A (n.2416-1G>A)
2g.189053020T>ACA349871451COL5A2c.2554-2A>T (n.2554-2A>T)
c.1393-2A>T (n.1393-2A>T)
c.2416-2A>T (n.2416-2A>T)
2g.189053020T>CCA349871456COL5A2c.2554-2A>G (n.2554-2A>G)
c.1393-2A>G (n.1393-2A>G)
c.2416-2A>G (n.2416-2A>G)
2g.189053020T>GCA349871449COL5A2c.2554-2A>C (n.2554-2A>C)
c.1393-2A>C (n.1393-2A>C)
c.2416-2A>C (n.2416-2A>C)
2g.189053021A>GCA2701153345COL5A2c.2554-3T>C (n.2554-3T>C)
c.1393-3T>C (n.1393-3T>C)
c.2416-3T>C (n.2416-3T>C)
 dbSNP
2g.189053022T>CCA2662318323COL5A2c.2554-4A>G (n.2554-4A>G)
c.1393-4A>G (n.1393-4A>G)
c.2416-4A>G (n.2416-4A>G)
 gnomAD v4
2g.189053022_189053023delinsTACA1315426076COL5A2c.2554-5_2554-4delinsTA (n.2554-5_2554-4delinsTA)
c.1393-5_1393-4delinsTA (n.1393-5_1393-4delinsTA)
c.2416-5_2416-4delinsTA (n.2416-5_2416-4delinsTA)
2g.189053023A=CA1315426078COL5A2c.2554-5T= (n.2554-5T=)
c.1393-5T= (n.1393-5T=)
c.2416-5T= (n.2416-5T=)
2g.189053023A>GCA2022265COL5A2c.2554-5T>C (n.2554-5T>C)
c.1393-5T>C (n.1393-5T>C)
c.2416-5T>C (n.2416-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189053028dupCA645527007COL5A2c.2554-5dup (n.2554-5dup)
c.1393-5dup (n.1393-5dup)
c.2416-5dup (n.2416-5dup)
 gnomAD v4 COSMIC
2g.189053028delCA1315426077COL5A2c.2554-5del (n.2554-5del)
c.1393-5del (n.1393-5del)
c.2416-5del (n.2416-5del)
 dbSNP gnomAD v4
2g.189053024A>CCA2662318324COL5A2c.2554-6T>G (n.2554-6T>G)
c.1393-6T>G (n.1393-6T>G)
c.2416-6T>G (n.2416-6T>G)
 dbSNP gnomAD v4
2g.189053027A=CA1315426079COL5A2c.2554-9T= (n.2554-9T=)
c.1393-9T= (n.1393-9T=)
c.2416-9T= (n.2416-9T=)
2g.189053027A>CCA2022266COL5A2c.2554-9T>G (n.2554-9T>G)
c.1393-9T>G (n.1393-9T>G)
c.2416-9T>G (n.2416-9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189053027A>GCA538452243COL5A2c.2554-9T>C (n.2554-9T>C)
c.1393-9T>C (n.1393-9T>C)
c.2416-9T>C (n.2416-9T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189053028A>TCA2580065308COL5A2c.2554-10T>A (n.2554-10T>A)
c.1393-10T>A (n.1393-10T>A)
c.2416-10T>A (n.2416-10T>A)
 ClinVar gnomAD v4
2g.189053029T>CCA2577186617COL5A2c.2554-11A>G (n.2554-11A>G)
c.1393-11A>G (n.1393-11A>G)
c.2416-11A>G (n.2416-11A>G)
2g.189053030T>ACA2753586127COL5A2c.2554-12A>T (n.2554-12A>T)
c.1393-12A>T (n.1393-12A>T)
c.2416-12A>T (n.2416-12A>T)
2g.189053030T>CCA2662318325COL5A2c.2554-12A>G (n.2554-12A>G)
c.1393-12A>G (n.1393-12A>G)
c.2416-12A>G (n.2416-12A>G)
 gnomAD v4
2g.189053032T>ACA2753586130COL5A2c.2554-14A>T (n.2554-14A>T)
c.1393-14A>T (n.1393-14A>T)
c.2416-14A>T (n.2416-14A>T)
2g.189053032T>CCA290382COL5A2c.2554-14A>G (n.2554-14A>G)
c.1393-14A>G (n.1393-14A>G)
c.2416-14A>G (n.2416-14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189053032T=CA1315426080COL5A2c.2554-14A= (n.2554-14A=)
c.1393-14A= (n.1393-14A=)
c.2416-14A= (n.2416-14A=)
2g.189053033A=CA1315426081COL5A2c.2554-15T= (n.2554-15T=)
c.1393-15T= (n.1393-15T=)
c.2416-15T= (n.2416-15T=)
2g.189053033A>CCA2753586132COL5A2c.2554-15T>G (n.2554-15T>G)
c.1393-15T>G (n.1393-15T>G)
c.2416-15T>G (n.2416-15T>G)
2g.189053033A>GCA538452255COL5A2c.2554-15T>C (n.2554-15T>C)
c.1393-15T>C (n.1393-15T>C)
c.2416-15T>C (n.2416-15T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189053033_189053034insACCA2753586133COL5A2c.2554-16_2554-15insGT (n.2554-16_2554-15insGT)
c.1393-16_1393-15insGT (n.1393-16_1393-15insGT)
c.2416-16_2416-15insGT (n.2416-16_2416-15insGT)
2g.189053038C>TCA2577186618COL5A2c.2554-20G>A (n.2554-20G>A)
c.1393-20G>A (n.1393-20G>A)
c.2416-20G>A (n.2416-20G>A)
2g.189053039_189053040insCACCCAACACCA2753586134COL5A2c.2554-22_2554-21insGTGTTGGGTG (n.2554-22_2554-21insGTGTTGGGTG)
c.1393-22_1393-21insGTGTTGGGTG (n.1393-22_1393-21insGTGTTGGGTG)
c.2416-22_2416-21insGTGTTGGGTG (n.2416-22_2416-21insGTGTTGGGTG)
2g.189053040A=CA1315426082COL5A2c.2554-22T= (n.2554-22T=)
c.1393-22T= (n.1393-22T=)
c.2416-22T= (n.2416-22T=)
2g.189053040A>GCA2022267COL5A2c.2554-22T>C (n.2554-22T>C)
c.1393-22T>C (n.1393-22T>C)
c.2416-22T>C (n.2416-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189053041G>TCA2662318326COL5A2c.2554-23C>A (n.2554-23C>A)
c.1393-23C>A (n.1393-23C>A)
c.2416-23C>A (n.2416-23C>A)
 gnomAD v4
2g.189053042C>ACA538452258COL5A2c.2554-24G>T (n.2554-24G>T)
c.1393-24G>T (n.1393-24G>T)
c.2416-24G>T (n.2416-24G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189053042C=CA1315426083COL5A2c.2554-24G= (n.2554-24G=)
c.1393-24G= (n.1393-24G=)
c.2416-24G= (n.2416-24G=)
2g.189053042C>TCA538452261COL5A2c.2554-24G>A (n.2554-24G>A)
c.1393-24G>A (n.1393-24G>A)
c.2416-24G>A (n.2416-24G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189053044A=CA1315426084COL5A2c.2554-26T= (n.2554-26T=)
c.1393-26T= (n.1393-26T=)
c.2416-26T= (n.2416-26T=)
2g.189053044A>TCA538452262COL5A2c.2554-26T>A (n.2554-26T>A)
c.1393-26T>A (n.1393-26T>A)
c.2416-26T>A (n.2416-26T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189053045T>ACA62597113COL5A2c.2554-27A>T (n.2554-27A>T)
c.1393-27A>T (n.1393-27A>T)
c.2416-27A>T (n.2416-27A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189053045T=CA1315426085COL5A2c.2554-27A= (n.2554-27A=)
c.1393-27A= (n.1393-27A=)
c.2416-27A= (n.2416-27A=)
2g.189053047G=CA1315426086COL5A2c.2554-29C= (n.2554-29C=)
c.1393-29C= (n.1393-29C=)
c.2416-29C= (n.2416-29C=)
2g.189053047G>TCA2022268COL5A2c.2554-29C>A (n.2554-29C>A)
c.1393-29C>A (n.1393-29C>A)
c.2416-29C>A (n.2416-29C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189053049T>GCA2662318327COL5A2c.2554-31A>C (n.2554-31A>C)
c.1393-31A>C (n.1393-31A>C)
c.2416-31A>C (n.2416-31A>C)
 gnomAD v4
2g.189053050T>GCA538452267COL5A2c.2554-32A>C (n.2554-32A>C)
c.1393-32A>C (n.1393-32A>C)
c.2416-32A>C (n.2416-32A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189053050T=CA1315426087COL5A2c.2554-32A= (n.2554-32A=)
c.1393-32A= (n.1393-32A=)
c.2416-32A= (n.2416-32A=)
2g.189053051A=CA1315426088COL5A2c.2554-33T= (n.2554-33T=)
c.1393-33T= (n.1393-33T=)
c.2416-33T= (n.2416-33T=)
2g.189053051A>TCA538452270COL5A2c.2554-33T>A (n.2554-33T>A)
c.1393-33T>A (n.1393-33T>A)
c.2416-33T>A (n.2416-33T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189053055G>ACA538452272COL5A2c.2554-37C>T (n.2554-37C>T)
c.1393-37C>T (n.1393-37C>T)
c.2416-37C>T (n.2416-37C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189053055G=CA1315426089COL5A2c.2554-37C= (n.2554-37C=)
c.1393-37C= (n.1393-37C=)
c.2416-37C= (n.2416-37C=)

Number of alleles fetched