Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94404565G>ACA368219439COL1A2c.289G>A (p.Gly97Arg)
c.283G>A (p.Gly95Arg)
 COSMIC
7g.94404565G>CCA368219440COL1A2c.289G>C (p.Gly97Arg)
c.283G>C (p.Gly95Arg)
7g.94404565G>TCA368219441COL1A2c.289G>T (p.Gly97Ter)
c.283G>T (p.Gly95Ter)
7g.94404566G>ACA368219442COL1A2c.290G>A (p.Gly97Glu)
c.284G>A (p.Gly95Glu)
 ClinVar dbSNP COSMIC
7g.94404566G>CCA368219443COL1A2c.290G>C (p.Gly97Ala)
c.284G>C (p.Gly95Ala)
7g.94404566G=CA1726792141COL1A2c.290G= (p.Gly97=)
c.284G= (p.Gly95=)
7g.94404566G>TCA368219444COL1A2c.290G>T (p.Gly97Val)
c.284G>T (p.Gly95Val)
7g.94404567A=CA1726792142COL1A2c.291A= (p.Gly97=)
c.285A= (p.Gly95=)
7g.94404567A>CCA456487032COL1A2c.291A>C (p.Gly97=)
c.285A>C (p.Gly95=)
7g.94404567A>GCA456487031COL1A2c.291A>G (p.Gly97=)
c.285A>G (p.Gly95=)
7g.94404567A>TCA456487030COL1A2c.291A>T (p.Gly97=)
c.285A>T (p.Gly95=)
7g.94404568C>ACA368219445COL1A2c.292C>A (p.Pro98Thr)
c.286C>A (p.Pro96Thr)
 ClinVar dbSNP gnomAD v4
7g.94404568C=CA1726792143COL1A2c.292C= (p.Pro98=)
c.286C= (p.Pro96=)
7g.94404568C>GCA368219446COL1A2c.292C>G (p.Pro98Ala)
c.286C>G (p.Pro96Ala)
7g.94404568C>TCA4346616COL1A2c.292C>T (p.Pro98Ser)
c.286C>T (p.Pro96Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404569dupCA213001COL1A2c.293dup (p.Arg99Ter)
c.287dup (p.Arg97Ter)
 ClinVar dbSNP
7g.94404569C>ACA368219449COL1A2c.293C>A (p.Pro98His)
c.287C>A (p.Pro96His)
 gnomAD v4
7g.94404569C>GCA368219448COL1A2c.293C>G (p.Pro98Arg)
c.287C>G (p.Pro96Arg)
7g.94404569C>TCA368219447COL1A2c.293C>T (p.Pro98Leu)
c.287C>T (p.Pro96Leu)
 COSMIC
7g.94404570T>ACA456487036COL1A2c.294T>A (p.Pro98=)
c.288T>A (p.Pro96=)
7g.94404570T>CCA456487035COL1A2c.294T>C (p.Pro98=)
c.288T>C (p.Pro96=)
7g.94404570T>GCA456487034COL1A2c.294T>G (p.Pro98=)
c.288T>G (p.Pro96=)
7g.94404571A>CCA456487037COL1A2c.295A>C (p.Arg99=)
c.289A>C (p.Arg97=)
7g.94404571A>GCA368219451COL1A2c.295A>G (p.Arg99Gly)
c.289A>G (p.Arg97Gly)
7g.94404571A>TCA368219450COL1A2c.295A>T (p.Arg99Ter)
c.289A>T (p.Arg97Ter)
7g.94404572G>ACA368219452COL1A2c.296G>A (p.Arg99Lys)
c.290G>A (p.Arg97Lys)
 dbSNP
7g.94404572G>CCA368219453COL1A2c.296G>C (p.Arg99Thr)
c.290G>C (p.Arg97Thr)
7g.94404572G=CA1726792144COL1A2c.296G= (p.Arg99=)
c.290G= (p.Arg97=)
7g.94404572G>TCA368219454COL1A2c.296G>T (p.Arg99Ile)
c.290G>T (p.Arg97Ile)
7g.94404573A>CCA368219455COL1A2c.297A>C (p.Arg99Ser)
c.291A>C (p.Arg97Ser)
7g.94404573A>GCA456487040COL1A2c.297A>G (p.Arg99=)
c.291A>G (p.Arg97=)
7g.94404573A>TCA368219456COL1A2c.297A>T (p.Arg99Ser)
c.291A>T (p.Arg97Ser)
7g.94404574G>ACA368219459COL1A2c.298G>A (p.Gly100Ser)
c.292G>A (p.Gly98Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404574G>CCA368219458COL1A2c.298G>C (p.Gly100Arg)
c.292G>C (p.Gly98Arg)
7g.94404574G=CA1726792145COL1A2c.298G= (p.Gly100=)
c.292G= (p.Gly98=)
7g.94404574G>TCA368219457COL1A2c.298G>T (p.Gly100Cys)
c.292G>T (p.Gly98Cys)
 COSMIC
7g.94404575G>ACA368219460COL1A2c.299G>A (p.Gly100Asp)
c.293G>A (p.Gly98Asp)
 ClinVar
7g.94404575G>CCA368219461COL1A2c.299G>C (p.Gly100Ala)
c.293G>C (p.Gly98Ala)
7g.94404575G=CA1726792146COL1A2c.299G= (p.Gly100=)
c.293G= (p.Gly98=)
7g.94404575G>TCA368219462COL1A2c.299G>T (p.Gly100Val)
c.293G>T (p.Gly98Val)
 ClinVar dbSNP
7g.94404576C>ACA456487042COL1A2c.300C>A (p.Gly100=)
c.294C>A (p.Gly98=)
7g.94404576C=CA1726792147COL1A2c.300C= (p.Gly100=)
c.294C= (p.Gly98=)
7g.94404576C>GCA456487043COL1A2c.300C>G (p.Gly100=)
c.294C>G (p.Gly98=)
7g.94404576C>TCA4346617COL1A2c.300C>T (p.Gly100=)
c.294C>T (p.Gly98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404578delCA645565820COL1A2c.302del (p.Pro101HisfsTer?)
c.296del (p.Pro99HisfsTer?)
 COSMIC
7g.94404577C>ACA368219463COL1A2c.301C>A (p.Pro101Thr)
c.295C>A (p.Pro99Thr)
7g.94404577C>GCA368219464COL1A2c.301C>G (p.Pro101Ala)
c.295C>G (p.Pro99Ala)
7g.94404577C>TCA368219465COL1A2c.301C>T (p.Pro101Ser)
c.295C>T (p.Pro99Ser)
 COSMIC
7g.94404578C>ACA368219466COL1A2c.302C>A (p.Pro101Gln)
c.296C>A (p.Pro99Gln)
7g.94404578C>GCA368219468COL1A2c.302C>G (p.Pro101Arg)
c.296C>G (p.Pro99Arg)
7g.94404578C>TCA368219467COL1A2c.302C>T (p.Pro101Leu)
c.296C>T (p.Pro99Leu)
 ClinVar COSMIC
7g.94404579A>CCA456487044COL1A2c.303A>C (p.Pro101=)
c.297A>C (p.Pro99=)
7g.94404579A>GCA456487046COL1A2c.303A>G (p.Pro101=)
c.297A>G (p.Pro99=)
7g.94404579A>TCA456487047COL1A2c.303A>T (p.Pro101=)
c.297A>T (p.Pro99=)
7g.94404580C>ACA368219469COL1A2c.304C>A (p.Pro102Thr)
c.298C>A (p.Pro100Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404580C=CA1726792148COL1A2c.304C= (p.Pro102=)
c.298C= (p.Pro100=)
7g.94404580C>GCA368219470COL1A2c.304C>G (p.Pro102Ala)
c.298C>G (p.Pro100Ala)
 gnomAD v4
7g.94404580C>TCA4346618COL1A2c.304C>T (p.Pro102Ser)
c.298C>T (p.Pro100Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404581C>ACA368219471COL1A2c.305C>A (p.Pro102His)
c.299C>A (p.Pro100His)
7g.94404581C=CA1726792149COL1A2c.305C= (p.Pro102=)
c.299C= (p.Pro100=)
7g.94404581C>GCA4346619COL1A2c.305C>G (p.Pro102Arg)
c.299C>G (p.Pro100Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404581C>TCA368219472COL1A2c.305C>T (p.Pro102Leu)
c.299C>T (p.Pro100Leu)
7g.94404582T>ACA456487050COL1A2c.306T>A (p.Pro102=)
c.300T>A (p.Pro100=)
7g.94404582T>CCA456487051COL1A2c.306T>C (p.Pro102=)
c.300T>C (p.Pro100=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.94404582T>GCA456487052COL1A2c.306T>G (p.Pro102=)
c.300T>G (p.Pro100=)
7g.94404582T=CA1726792150COL1A2c.306T= (p.Pro102=)
c.300T= (p.Pro100=)
7g.94404583G>ACA368219473COL1A2c.307G>A (p.Gly103Ser)
c.301G>A (p.Gly101Ser)
7g.94404583G>CCA368219474COL1A2c.307G>C (p.Gly103Arg)
c.301G>C (p.Gly101Arg)
7g.94404583G>TCA368219475COL1A2c.307G>T (p.Gly103Cys)
c.301G>T (p.Gly101Cys)
7g.94404584G>ACA368219476COL1A2c.308G>A (p.Gly103Asp)
c.302G>A (p.Gly101Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94404584G>CCA368219477COL1A2c.308G>C (p.Gly103Ala)
c.302G>C (p.Gly101Ala)
7g.94404584G=CA1726792151COL1A2c.308G= (p.Gly103=)
c.302G= (p.Gly101=)
7g.94404584G>TCA368219478COL1A2c.308G>T (p.Gly103Val)
c.302G>T (p.Gly101Val)
7g.94404585T>ACA456487055COL1A2c.309T>A (p.Gly103=)
c.303T>A (p.Gly101=)
7g.94404585T>CCA456487056COL1A2c.309T>C (p.Gly103=)
c.303T>C (p.Gly101=)
7g.94404585T>GCA456487057COL1A2c.309T>G (p.Gly103=)
c.303T>G (p.Gly101=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404585T=CA1726792152COL1A2c.309T= (p.Gly103=)
c.303T= (p.Gly101=)
7g.94404586G>ACA4346620COL1A2c.310G>A (p.Ala104Thr)
c.304G>A (p.Ala102Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404586G>CCA368219480COL1A2c.310G>C (p.Ala104Pro)
c.304G>C (p.Ala102Pro)
7g.94404586G=CA1726792153COL1A2c.310G= (p.Ala104=)
c.304G= (p.Ala102=)
7g.94404586G>TCA368219479COL1A2c.310G>T (p.Ala104Ser)
c.304G>T (p.Ala102Ser)
7g.94404587C>ACA368219481COL1A2c.311C>A (p.Ala104Glu)
c.305C>A (p.Ala102Glu)
7g.94404587C=CA1726792154COL1A2c.311C= (p.Ala104=)
c.305C= (p.Ala102=)
7g.94404587C>GCA368219482COL1A2c.311C>G (p.Ala104Gly)
c.305C>G (p.Ala102Gly)
7g.94404587C>TCA368219483COL1A2c.311C>T (p.Ala104Val)
c.305C>T (p.Ala102Val)
 dbSNP COSMIC
7g.94404588A>CCA456487062COL1A2c.312A>C (p.Ala104=)
c.306A>C (p.Ala102=)
7g.94404588A>GCA456487063COL1A2c.312A>G (p.Ala104=)
c.306A>G (p.Ala102=)
7g.94404588A>TCA456487064COL1A2c.312A>T (p.Ala104=)
c.306A>T (p.Ala102=)
7g.94404589G>ACA368219484COL1A2c.313G>A (p.Ala105Thr)
c.307G>A (p.Ala103Thr)
7g.94404589G>CCA368219485COL1A2c.313G>C (p.Ala105Pro)
c.307G>C (p.Ala103Pro)
7g.94404589G>TCA368219486COL1A2c.313G>T (p.Ala105Ser)
c.307G>T (p.Ala103Ser)
7g.94404590C>ACA368219487COL1A2c.314C>A (p.Ala105Asp)
c.308C>A (p.Ala103Asp)
7g.94404590C=CA1726792155COL1A2c.314C= (p.Ala105=)
c.308C= (p.Ala103=)
7g.94404590C>GCA368219488COL1A2c.314C>G (p.Ala105Gly)
c.308C>G (p.Ala103Gly)
7g.94404590C>TCA368219489COL1A2c.314C>T (p.Ala105Val)
c.308C>T (p.Ala103Val)
 dbSNP
7g.94404591T>ACA456487065COL1A2c.315T>A (p.Ala105=)
c.309T>A (p.Ala103=)
7g.94404591T>CCA456487066COL1A2c.315T>C (p.Ala105=)
c.309T>C (p.Ala103=)
7g.94404591T>GCA456487068COL1A2c.315T>G (p.Ala105=)
c.309T>G (p.Ala103=)
7g.94404592G>ACA368219490COL1A2c.316G>A (p.Gly106Arg)
c.310G>A (p.Gly104Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.94404592G>CCA368219491COL1A2c.316G>C (p.Gly106Arg)
c.310G>C (p.Gly104Arg)
7g.94404592G=CA1726792156COL1A2c.316G= (p.Gly106=)
c.310G= (p.Gly104=)
7g.94404592G>TCA368219492COL1A2c.316G>T (p.Gly106Ter)
c.310G>T (p.Gly104Ter)
7g.94404593G>ACA368219494COL1A2c.317G>A (p.Gly106Glu)
c.311G>A (p.Gly104Glu)
 ClinVar dbSNP
7g.94404593G>CCA368219495COL1A2c.317G>C (p.Gly106Ala)
c.311G>C (p.Gly104Ala)
7g.94404593G>TCA368219493COL1A2c.317G>T (p.Gly106Val)
c.311G>T (p.Gly104Val)
7g.94404594A=CA1726792157COL1A2c.318A= (p.Gly106=)
c.312A= (p.Gly104=)
7g.94404594A>CCA456487072COL1A2c.318A>C (p.Gly106=)
c.312A>C (p.Gly104=)
7g.94404594A>GCA456487070COL1A2c.318A>G (p.Gly106=)
c.312A>G (p.Gly104=)
 dbSNP gnomAD v2 gnomAD v4
7g.94404594A>TCA456487069COL1A2c.318A>T (p.Gly106=)
c.312A>T (p.Gly104=)
7g.94404595G>ACA368219496COL1A2c.319G>A (p.Ala107Thr)
c.313G>A (p.Ala105Thr)
7g.94404595G>CCA368219497COL1A2c.319G>C (p.Ala107Pro)
c.313G>C (p.Ala105Pro)
 dbSNP
7g.94404595G=CA1726792158COL1A2c.319G= (p.Ala107=)
c.313G= (p.Ala105=)
7g.94404595G>TCA368219498COL1A2c.319G>T (p.Ala107Ser)
c.313G>T (p.Ala105Ser)
7g.94404596C>ACA368219499COL1A2c.320C>A (p.Ala107Asp)
c.314C>A (p.Ala105Asp)
 gnomAD v4
7g.94404596C>GCA368219500COL1A2c.320C>G (p.Ala107Gly)
c.314C>G (p.Ala105Gly)
7g.94404596C>TCA368219501COL1A2c.320C>T (p.Ala107Val)
c.314C>T (p.Ala105Val)
7g.94404597C>ACA4346621COL1A2c.321C>A (p.Ala107=)
c.315C>A (p.Ala105=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404597C=CA1726792159COL1A2c.321C= (p.Ala107=)
c.315C= (p.Ala105=)
7g.94404597C>GCA456487074COL1A2c.321C>G (p.Ala107=)
c.315C>G (p.Ala105=)
7g.94404597C>TCA456487076COL1A2c.321C>T (p.Ala107=)
c.315C>T (p.Ala105=)
 dbSNP
7g.94404598C>ACA4346622COL1A2c.322C>A (p.Pro108Thr)
c.316C>A (p.Pro106Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404598C=CA1726792160COL1A2c.322C= (p.Pro108=)
c.316C= (p.Pro106=)
7g.94404598C>GCA368219502COL1A2c.322C>G (p.Pro108Ala)
c.316C>G (p.Pro106Ala)
7g.94404598C>TCA368219503COL1A2c.322C>T (p.Pro108Ser)
c.316C>T (p.Pro106Ser)
7g.94404599C>ACA368219504COL1A2c.323C>A (p.Pro108Gln)
c.317C>A (p.Pro106Gln)
7g.94404599C=CA1726792161COL1A2c.323C= (p.Pro108=)
c.317C= (p.Pro106=)
7g.94404599C>GCA368219505COL1A2c.323C>G (p.Pro108Arg)
c.317C>G (p.Pro106Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94404599C>TCA368219506COL1A2c.323C>T (p.Pro108Leu)
c.317C>T (p.Pro106Leu)
7g.94404600A>CCA456487078COL1A2c.324A>C (p.Pro108=)
c.318A>C (p.Pro106=)
7g.94404600A>GCA456487082COL1A2c.324A>G (p.Pro108=)
c.318A>G (p.Pro106=)
7g.94404600A>TCA456487080COL1A2c.324A>T (p.Pro108=)
c.318A>T (p.Pro106=)
7g.94404601G>ACA368219507COL1A2c.324+1G>A (n.324+1G>A)
c.318+1G>A (n.318+1G>A)
 gnomAD v4
7g.94404601G>CCA368219509COL1A2c.324+1G>C (n.324+1G>C)
c.318+1G>C (n.318+1G>C)
7g.94404601G>TCA368219508COL1A2c.324+1G>T (n.324+1G>T)
c.318+1G>T (n.318+1G>T)
7g.94404602_94404693delCA2776990967COL1A2c.324+2_325del
c.318+2_319del
7g.94404602T>ACA368219510COL1A2c.324+2T>A (n.324+2T>A)
c.318+2T>A (n.318+2T>A)
7g.94404602T>CCA368219511COL1A2c.324+2T>C (n.324+2T>C)
c.318+2T>C (n.318+2T>C)
7g.94404602T>GCA368219512COL1A2c.324+2T>G (n.324+2T>G)
c.318+2T>G (n.318+2T>G)
7g.94404602_94404603delinsTACA1726792162COL1A2c.324+2_324+3delinsTA (n.324+2_324+3delinsTA)
c.318+2_318+3delinsTA (n.318+2_318+3delinsTA)
7g.94404604delCA1139660141COL1A2c.324+4del (n.324+4del)
c.318+4del (n.318+4del)
 ClinVar dbSNP
7g.94404604A=CA1726792163COL1A2c.324+4A= (n.324+4A=)
c.318+4A= (n.318+4A=)
7g.94404604A>CCA1726792164COL1A2c.324+4A>C (n.324+4A>C)
c.318+4A>C (n.318+4A>C)
 dbSNP
7g.94404604A>GCA2683767082COL1A2c.324+4A>G (n.324+4A>G)
c.318+4A>G (n.318+4A>G)
 gnomAD v4
7g.94404606T>CCA1104605173COL1A2c.324+6T>C (n.324+6T>C)
c.318+6T>C (n.318+6T>C)
 dbSNP gnomAD v3 gnomAD v4
7g.94404606T=CA1726792165COL1A2c.324+6T= (n.324+6T=)
c.318+6T= (n.318+6T=)
7g.94404608C>TCA2715125011COL1A2c.324+8C>T (n.324+8C>T)
c.318+8C>T (n.318+8C>T)
 dbSNP
7g.94404609T>CCA1726792167COL1A2c.324+9T>C (n.324+9T>C)
c.318+9T>C (n.318+9T>C)
 dbSNP gnomAD v4
7g.94404609T=CA1726792166COL1A2c.324+9T= (n.324+9T=)
c.318+9T= (n.318+9T=)
7g.94404610G>ACA2683767083COL1A2c.324+10G>A (n.324+10G>A)
c.318+10G>A (n.318+10G>A)
 gnomAD v4
7g.94404614G>ACA2683767084COL1A2c.324+14G>A (n.324+14G>A)
c.318+14G>A (n.318+14G>A)
 ClinVar gnomAD v4
7g.94404615C=CA1726792168COL1A2c.324+15C= (n.324+15C=)
c.318+15C= (n.318+15C=)
7g.94404615C>TCA4346623COL1A2c.324+15C>T (n.324+15C>T)
c.318+15C>T (n.318+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404619_94404623dupCA2683767085COL1A2c.324+19_324+23dup (n.324+19_324+23dup)
c.318+19_318+23dup (n.318+19_318+23dup)
 gnomAD v4
7g.94404618G>ACA162914115COL1A2c.324+18G>A (n.324+18G>A)
c.318+18G>A (n.318+18G>A)
 dbSNP gnomAD v3 gnomAD v4
7g.94404618G=CA1726792169COL1A2c.324+18G= (n.324+18G=)
c.318+18G= (n.318+18G=)
7g.94404620A>GCA2683767086COL1A2c.324+20A>G (n.324+20A>G)
c.318+20A>G (n.318+20A>G)
 gnomAD v4
7g.94404622T>CCA162914117COL1A2c.324+22T>C (n.324+22T>C)
c.318+22T>C (n.318+22T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94404622T=CA1726792170COL1A2c.324+22T= (n.324+22T=)
c.318+22T= (n.318+22T=)
7g.94404624C=CA1726792171COL1A2c.324+24C= (n.324+24C=)
c.318+24C= (n.318+24C=)
7g.94404624C>TCA1726792172COL1A2c.324+24C>T (n.324+24C>T)
c.318+24C>T (n.318+24C>T)
 dbSNP gnomAD v4
7g.94404627C=CA1726792173COL1A2c.324+27C= (n.324+27C=)
c.318+27C= (n.318+27C=)
7g.94404627C>TCA4346624COL1A2c.324+27C>T (n.324+27C>T)
c.318+27C>T (n.318+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404630A>GCA2683767087COL1A2c.324+30A>G (n.324+30A>G)
c.318+30A>G (n.318+30A>G)
 gnomAD v4
7g.94404631T>CCA576321548COL1A2c.324+31T>C (n.324+31T>C)
c.318+31T>C (n.318+31T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94404631T>GCA2578941491COL1A2c.324+31T>G (n.324+31T>G)
c.318+31T>G (n.318+31T>G)
7g.94404631T=CA1726792174COL1A2c.324+31T= (n.324+31T=)
c.318+31T= (n.318+31T=)
7g.94404633T>CCA1726792176COL1A2c.324+33T>C (n.324+33T>C)
c.318+33T>C (n.318+33T>C)
 dbSNP
7g.94404633T=CA1726792175COL1A2c.324+33T= (n.324+33T=)
c.318+33T= (n.318+33T=)
7g.94404634A>GCA2683767089COL1A2c.324+34A>G (n.324+34A>G)
c.318+34A>G (n.318+34A>G)
 gnomAD v4
7g.94404638delCA2683767088COL1A2c.324+38del (n.324+38del)
c.318+38del (n.318+38del)
 gnomAD v4
7g.94404635A=CA1726792177COL1A2c.324+35A= (n.324+35A=)
c.318+35A= (n.318+35A=)
7g.94404635A>CCA843998536COL1A2c.324+35A>C (n.324+35A>C)
c.318+35A>C (n.318+35A>C)
 dbSNP
7g.94404637A=CA1726792178COL1A2c.324+37A= (n.324+37A=)
c.318+37A= (n.318+37A=)
7g.94404637A>GCA576321549COL1A2c.324+37A>G (n.324+37A>G)
c.318+37A>G (n.318+37A>G)
 dbSNP gnomAD v2
7g.94404641_94404644delCA2683767090COL1A2c.324+41_324+44del (n.324+41_324+44del)
c.318+41_318+44del (n.318+41_318+44del)
 gnomAD v4
7g.94404640A=CA1726792179COL1A2c.324+40A= (n.324+40A=)
c.318+40A= (n.318+40A=)
7g.94404640A>GCA576321550COL1A2c.324+40A>G (n.324+40A>G)
c.318+40A>G (n.318+40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404642A=CA1726792180COL1A2c.324+42A= (n.324+42A=)
c.318+42A= (n.318+42A=)
7g.94404642A>GCA4346625COL1A2c.324+42A>G (n.324+42A>G)
c.318+42A>G (n.318+42A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404645_94404646delCA2683767091COL1A2c.324+45_325-47del (n.324+45_325-47del)
c.318+45_319-47del (n.318+45_319-47del)
 gnomAD v4
7g.94404645G>ACA2683767092COL1A2c.324+45G>A (n.324+45G>A)
c.318+45G>A (n.318+45G>A)
 gnomAD v4
7g.94404645G=CA1726792181COL1A2c.324+45G= (n.324+45G=)
c.318+45G= (n.318+45G=)
7g.94404645G>TCA162914127COL1A2c.324+45G>T (n.324+45G>T)
c.318+45G>T (n.318+45G>T)
 dbSNP
7g.94404653A=CA1726792183COL1A2c.325-40A= (n.325-40A=)
c.319-40A= (n.319-40A=)
7g.94404653A>GCA1726792182COL1A2c.325-40A>G (n.325-40A>G)
c.319-40A>G (n.319-40A>G)
 dbSNP gnomAD v4
7g.94404654A=CA1726792184COL1A2c.325-39A= (n.325-39A=)
c.319-39A= (n.319-39A=)
7g.94404654A>CCA843998547COL1A2c.325-39A>C (n.325-39A>C)
c.319-39A>C (n.319-39A>C)
 dbSNP gnomAD v3 gnomAD v4
7g.94404655A>CCA2683767093COL1A2c.325-38A>C (n.325-38A>C)
c.319-38A>C (n.319-38A>C)
 gnomAD v4
7g.94404661G>CCA576321551COL1A2c.325-32G>C (n.325-32G>C)
c.319-32G>C (n.319-32G>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94404661G=CA1726792185COL1A2c.325-32G= (n.325-32G=)
c.319-32G= (n.319-32G=)
7g.94404661G>TCA2683767094COL1A2c.325-32G>T (n.325-32G>T)
c.319-32G>T (n.319-32G>T)
 gnomAD v4
7g.94404662C=CA1726792186COL1A2c.325-31C= (n.325-31C=)
c.319-31C= (n.319-31C=)
7g.94404662C>TCA456487084COL1A2c.325-31C>T (n.325-31C>T)
c.319-31C>T (n.319-31C>T)
7g.94404663T>CCA2578941492COL1A2c.325-30T>C (n.325-30T>C)
c.319-30T>C (n.319-30T>C)
7g.94404664dupCA4346626COL1A2c.325-29dup (n.325-29dup)
c.319-29dup (n.319-29dup)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.94404665G>ACA2601794977COL1A2c.325-28G>A (n.325-28G>A)
c.319-28G>A (n.319-28G>A)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched