Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189052942_189052945delinsGGTCCA1315426043COL5A2c.2627_2630delinsGACC (p.Gly876=)
c.1466_1469delinsGACC (p.Gly489=)
c.2489_2492delinsGACC (p.Gly830=)
2g.189052943_189052945delCA538452228COL5A2c.2627_2629del (p.Gly876_Pro877delinsAla)
c.1466_1468del (p.Gly489_Pro490delinsAla)
c.2489_2491del (p.Gly830_Pro831delinsAla)
 dbSNP gnomAD v2 gnomAD v4
2g.189052945C>ACA349871055COL5A2c.2627G>T (p.Gly876Val)
c.1466G>T (p.Gly489Val)
c.2489G>T (p.Gly830Val)
2g.189052945C=CA1315426044COL5A2c.2627G= (p.Gly876=)
c.1466G= (p.Gly489=)
c.2489G= (p.Gly830=)
2g.189052945C>GCA349871059COL5A2c.2627G>C (p.Gly876Ala)
c.1466G>C (p.Gly489Ala)
c.2489G>C (p.Gly830Ala)
 gnomAD v4
2g.189052945C>TCA10588328COL5A2c.2627G>A (p.Gly876Glu)
c.1466G>A (p.Gly489Glu)
c.2489G>A (p.Gly830Glu)
 ClinVar dbSNP
2g.189052946C>ACA349871063COL5A2c.2626G>T (p.Gly876Ter)
c.1465G>T (p.Gly489Ter)
c.2488G>T (p.Gly830Ter)
2g.189052946C>GCA349871066COL5A2c.2626G>C (p.Gly876Arg)
c.1465G>C (p.Gly489Arg)
c.2488G>C (p.Gly830Arg)
2g.189052946C>TCA349871067COL5A2c.2626G>A (p.Gly876Arg)
c.1465G>A (p.Gly489Arg)
c.2488G>A (p.Gly830Arg)
2g.189052947A=CA1315426045COL5A2c.2625T= (p.Pro875=)
c.1464T= (p.Pro488=)
c.2487T= (p.Pro829=)
2g.189052947A>CCA430323044COL5A2c.2625T>G (p.Pro875=)
c.1464T>G (p.Pro488=)
c.2487T>G (p.Pro829=)
2g.189052947A>GCA2022256COL5A2c.2625T>C (p.Pro875=)
c.1464T>C (p.Pro488=)
c.2487T>C (p.Pro829=)
 dbSNP ExAC gnomAD v2
2g.189052947A>TCA430323046COL5A2c.2625T>A (p.Pro875=)
c.1464T>A (p.Pro488=)
c.2487T>A (p.Pro829=)
 gnomAD v4
2g.189052948G>ACA349871070COL5A2c.2624C>T (p.Pro875Leu)
c.1463C>T (p.Pro488Leu)
c.2486C>T (p.Pro829Leu)
2g.189052948G>CCA349871071COL5A2c.2624C>G (p.Pro875Arg)
c.1463C>G (p.Pro488Arg)
c.2486C>G (p.Pro829Arg)
2g.189052948G>TCA349871073COL5A2c.2624C>A (p.Pro875His)
c.1463C>A (p.Pro488His)
c.2486C>A (p.Pro829His)
2g.189052949G>ACA2022257COL5A2c.2623C>T (p.Pro875Ser)
c.1462C>T (p.Pro488Ser)
c.2485C>T (p.Pro829Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052949G>CCA349871077COL5A2c.2623C>G (p.Pro875Ala)
c.1462C>G (p.Pro488Ala)
c.2485C>G (p.Pro829Ala)
 dbSNP gnomAD v4
2g.189052949G=CA1315426046COL5A2c.2623C= (p.Pro875=)
c.1462C= (p.Pro488=)
c.2485C= (p.Pro829=)
2g.189052949G>TCA349871079COL5A2c.2623C>A (p.Pro875Thr)
c.1462C>A (p.Pro488Thr)
c.2485C>A (p.Pro829Thr)
2g.189052950A=CA1315426047COL5A2c.2622T= (p.Ser874=)
c.1461T= (p.Ser487=)
c.2484T= (p.Ser828=)
2g.189052950A>CCA430323048COL5A2c.2622T>G (p.Ser874=)
c.1461T>G (p.Ser487=)
c.2484T>G (p.Ser828=)
2g.189052950A>GCA430323049COL5A2c.2622T>C (p.Ser874=)
c.1461T>C (p.Ser487=)
c.2484T>C (p.Ser828=)
2g.189052950A>TCA430323050COL5A2c.2622T>A (p.Ser874=)
c.1461T>A (p.Ser487=)
c.2484T>A (p.Ser828=)
 dbSNP gnomAD v2 gnomAD v4
2g.189052951G>ACA349871087COL5A2c.2621C>T (p.Ser874Phe)
c.1460C>T (p.Ser487Phe)
c.2483C>T (p.Ser828Phe)
2g.189052951G>CCA349871089COL5A2c.2621C>G (p.Ser874Cys)
c.1460C>G (p.Ser487Cys)
c.2483C>G (p.Ser828Cys)
2g.189052951G>TCA349871091COL5A2c.2621C>A (p.Ser874Tyr)
c.1460C>A (p.Ser487Tyr)
c.2483C>A (p.Ser828Tyr)
2g.189052952A>CCA349871100COL5A2c.2620T>G (p.Ser874Ala)
c.1459T>G (p.Ser487Ala)
c.2482T>G (p.Ser828Ala)
2g.189052952A>GCA349871093COL5A2c.2620T>C (p.Ser874Pro)
c.1459T>C (p.Ser487Pro)
c.2482T>C (p.Ser828Pro)
2g.189052952A>TCA349871095COL5A2c.2620T>A (p.Ser874Thr)
c.1459T>A (p.Ser487Thr)
c.2482T>A (p.Ser828Thr)
2g.189052953A>CCA430323052COL5A2c.2619T>G (p.Gly873=)
c.1458T>G (p.Gly486=)
c.2481T>G (p.Gly827=)
2g.189052953A>GCA430323053COL5A2c.2619T>C (p.Gly873=)
c.1458T>C (p.Gly486=)
c.2481T>C (p.Gly827=)
2g.189052953A>TCA430323054COL5A2c.2619T>A (p.Gly873=)
c.1458T>A (p.Gly486=)
c.2481T>A (p.Gly827=)
2g.189052954C>ACA349871103COL5A2c.2618G>T (p.Gly873Val)
c.1457G>T (p.Gly486Val)
c.2480G>T (p.Gly827Val)
2g.189052954C=CA1315426048COL5A2c.2618G= (p.Gly873=)
c.1457G= (p.Gly486=)
c.2480G= (p.Gly827=)
2g.189052954C>GCA349871106COL5A2c.2618G>C (p.Gly873Ala)
c.1457G>C (p.Gly486Ala)
c.2480G>C (p.Gly827Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189052954C>TCA349871108COL5A2c.2618G>A (p.Gly873Asp)
c.1457G>A (p.Gly486Asp)
c.2480G>A (p.Gly827Asp)
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

Number of alleles fetched